Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523290_131523292delinsCAA , CM000671.2:g.131523290_131523292delinsCAA	GRCh38
NC_000009.11:g.134398677_134398679delinsCAA , CM000671.1:g.134398677_134398679delinsCAA	GRCh37
NC_000009.10:g.133388498_133388500delinsCAA	NCBI36
NG_008896.1:g.25389_25391delinsCAA
NG_008896.2:g.25389_25391delinsCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.184_186delinsCAA	ENSP00000343034.7:n.184_186delinsCAA
ENST00000404875.7:n.2902_2904delinsCAA
ENST00000677295.2:c.2706_2708delinsCAA	ENSP00000504346.2:n.2706_2708delinsCAA
ENST00000678264.2:c.2545_2547delinsCAA	ENSP00000503157.2:n.2545_2547delinsCAA
ENST00000682070.1:n.2672_2674delinsCAA
ENST00000682639.1:c.239+120_239+122delinsCAA
ENST00000682813.1:n.2759_2761delinsCAA
ENST00000683231.1:c.240-28_240-26delinsCAA
ENST00000683392.1:n.4954_4956delinsCAA
ENST00000683900.1:n.4262_4264delinsCAA
ENST00000684062.1:n.3028_3030delinsCAA
ENST00000684399.1:c.240-63_240-61delinsCAA
ENST00000684579.1:n.4208_4210delinsCAA
ENST00000341012.12:c.184_186delinsCAA	ENSP00000343034.7:n.184_186delinsCAA
ENST00000372220.5:c.184_186delinsCAA	ENSP00000361294.5:n.184_186delinsCAA
ENST00000372228.9:c.184_186delinsCAA	ENSP00000361302.3:n.184_186delinsCAA
ENST00000402686.8:c.184_186delinsCAA MANE Select	ENSP00000385797.4:n.184_186delinsCAA
ENST00000676640.1:c.184_186delinsCAA	ENSP00000503281.1:n.184_186delinsCAA
ENST00000676803.1:c.184_186delinsCAA	ENSP00000503093.1:n.184_186delinsCAA
ENST00000676835.1:c.1577_1579delinsCAA	ENSP00000502911.1:n.1577_1579delinsCAA
ENST00000677029.1:c.184_186delinsCAA	ENSP00000502936.1:n.184_186delinsCAA
ENST00000677099.1:c.2072_2074delinsCAA	ENSP00000504553.1:n.2072_2074delinsCAA
ENST00000677216.1:c.184_186delinsCAA	ENSP00000503772.1:n.184_186delinsCAA
ENST00000677295.1:c.1584_1586delinsCAA	ENSP00000504346.1:n.1584_1586delinsCAA
ENST00000677444.1:c.2307_2309delinsCAA
ENST00000677626.1:c.184_186delinsCAA	ENSP00000503552.1:n.184_186delinsCAA
ENST00000677853.1:c.1370_1372delinsCAA	ENSP00000503488.1:n.1370_1372delinsCAA
ENST00000678303.1:c.184_186delinsCAA	ENSP00000503696.1:n.184_186delinsCAA
ENST00000678366.1:c.2611_2613delinsCAA	ENSP00000504353.1:n.2611_2613delinsCAA
ENST00000678546.1:c.2307_2309delinsCAA	ENSP00000503062.1:n.2307_2309delinsCAA
ENST00000678548.1:c.2501_2503delinsCAA	ENSP00000503934.1:n.2501_2503delinsCAA
ENST00000678626.1:n.2198_2200delinsCAA
ENST00000678739.1:c.2528_2530delinsCAA	ENSP00000503806.1:n.2528_2530delinsCAA
ENST00000678833.1:c.2114_2116delinsCAA	ENSP00000503893.1:n.2114_2116delinsCAA
ENST00000679023.1:c.65-57_65-55delinsCAA	ENSP00000503718.1:n.65-57_65-55delinsCA...
ENST00000679076.1:c.1981_1983delinsCAA
ENST00000679111.1:c.1118_1120delinsCAA	ENSP00000504257.1:n.1118_1120delinsCAA
ENST00000341012.11:c.184_186delinsCAA	ENSP00000343034.7:n.184_186delinsCAA
ENST00000372220.4:c.1225_1227delinsCAA	ENSP00000361294.4:n.1225_1227delinsCAA
ENST00000372228.7:c.184_186delinsCAA	ENSP00000361302.3:n.184_186delinsCAA
ENST00000402686.7:c.184_186delinsCAA	ENSP00000385797.3:n.184_186delinsCAA
ENST00000404875.6:c.184_186delinsCAA	ENSP00000384531.2:n.184_186delinsCAA
ENST00000423007.5:c.184_186delinsCAA	ENSP00000404119.1:n.184_186delinsCAA
ENST00000485278.5:n.2912_2914delinsCAA
NM_001077365.1:c.184_186delinsCAA	NP_001070833.1:n.184_186delinsCAA
NM_001077366.1:c.184_186delinsCAA	NP_001070834.1:n.184_186delinsCAA
NM_001136113.1:c.184_186delinsCAA	NP_001129585.1:n.184_186delinsCAA
NM_001136114.1:c.184_186delinsCAA	NP_001129586.1:n.184_186delinsCAA
NM_007171.3:c.184_186delinsCAA	NP_009102.3:n.184_186delinsCAA
XM_005272156.1:c.184_186delinsCAA	XP_005272213.1:n.184_186delinsCAA
XM_005272158.1:c.184_186delinsCAA	XP_005272215.1:n.184_186delinsCAA
XM_005272159.1:c.184_186delinsCAA	XP_005272216.1:n.184_186delinsCAA
XM_005272162.1:c.184_186delinsCAA	XP_005272219.1:n.184_186delinsCAA
XM_006716932.1:c.184_186delinsCAA	XP_006716995.1:n.184_186delinsCAA
XM_011518140.1:c.184_186delinsCAA	XP_011516442.1:n.184_186delinsCAA
XM_011518141.1:c.184_186delinsCAA	XP_011516443.1:n.184_186delinsCAA
XM_011518142.1:c.184_186delinsCAA	XP_011516444.1:n.184_186delinsCAA
XM_011518143.1:c.184_186delinsCAA	XP_011516445.1:n.184_186delinsCAA
XM_011518145.1:c.184_186delinsCAA	XP_011516447.1:n.184_186delinsCAA
XM_011518147.1:c.184_186delinsCAA	XP_011516449.1:n.184_186delinsCAA
XR_929703.1:n.2485-57_2485-55delinsCAA
NM_001353193.1:c.184_186delinsCAA	NP_001340122.1:n.184_186delinsCAA
NM_001353194.1:c.184_186delinsCAA	NP_001340123.1:n.184_186delinsCAA
NM_001353195.1:c.184_186delinsCAA	NP_001340124.1:n.184_186delinsCAA
NM_001353196.1:c.184_186delinsCAA	NP_001340125.1:n.184_186delinsCAA
NM_001353197.1:c.184_186delinsCAA	NP_001340126.1:n.184_186delinsCAA
NM_001353198.1:c.184_186delinsCAA	NP_001340127.1:n.184_186delinsCAA
NM_001353199.1:c.184_186delinsCAA	NP_001340128.1:n.184_186delinsCAA
NM_001353200.1:c.184_186delinsCAA	NP_001340129.1:n.184_186delinsCAA
NR_148391.1:n.2293-57_2293-55delinsCAA
NR_148392.1:n.2511-57_2511-55delinsCAA
NR_148393.1:n.2551_2553delinsCAA
NR_148394.1:n.2305_2307delinsCAA
NR_148395.1:n.2703_2705delinsCAA
NR_148396.1:n.2337_2339delinsCAA
NR_148397.1:n.2462_2464delinsCAA
NR_148398.1:n.2417_2419delinsCAA
NR_148399.1:n.2824-57_2824-55delinsCAA
NR_148400.1:n.2542_2544delinsCAA
XM_005272162.3:c.184_186delinsCAA	XP_005272219.1:n.184_186delinsCAA
XM_006716932.2:c.184_186delinsCAA	XP_006716995.1:n.184_186delinsCAA
XM_011518140.2:c.184_186delinsCAA	XP_011516442.1:n.184_186delinsCAA
XM_011518141.2:c.184_186delinsCAA	XP_011516443.1:n.184_186delinsCAA
XM_011518142.2:c.184_186delinsCAA	XP_011516444.1:n.184_186delinsCAA
XM_011518143.2:c.184_186delinsCAA	XP_011516445.1:n.184_186delinsCAA
XM_011518145.2:c.184_186delinsCAA	XP_011516447.1:n.184_186delinsCAA
XM_017014205.2:c.184_186delinsCAA	XP_016869694.1:n.184_186delinsCAA
XM_024447380.1:c.184_186delinsCAA	XP_024303148.1:n.184_186delinsCAA
XM_024447381.1:c.184_186delinsCAA	XP_024303149.1:n.184_186delinsCAA
XM_024447382.1:c.184_186delinsCAA	XP_024303150.1:n.184_186delinsCAA
XR_001746160.2:n.2413-57_2413-55delinsCAA
XR_001746162.2:n.2737_2739delinsCAA
XR_001746164.1:n.2454_2456delinsCAA
XR_001746166.2:n.2630-57_2630-55delinsCAA
NM_001077365.2:c.184_186delinsCAA MANE Select	NP_001070833.1:n.184_186delinsCAA
NM_001077366.2:c.184_186delinsCAA	NP_001070834.1:n.184_186delinsCAA
NM_001136113.2:c.184_186delinsCAA	NP_001129585.1:n.184_186delinsCAA
NM_001136114.2:c.184_186delinsCAA	NP_001129586.1:n.184_186delinsCAA
NM_001353193.2:c.184_186delinsCAA	NP_001340122.2:n.184_186delinsCAA
NM_001353194.2:c.184_186delinsCAA	NP_001340123.1:n.184_186delinsCAA
NM_001353195.2:c.184_186delinsCAA	NP_001340124.1:n.184_186delinsCAA
NM_001353196.2:c.184_186delinsCAA	NP_001340125.1:n.184_186delinsCAA
NM_001353197.2:c.184_186delinsCAA	NP_001340126.2:n.184_186delinsCAA
NM_001353198.2:c.184_186delinsCAA	NP_001340127.2:n.184_186delinsCAA
NM_001353199.2:c.184_186delinsCAA	NP_001340128.2:n.184_186delinsCAA
NM_001353200.2:c.184_186delinsCAA	NP_001340129.1:n.184_186delinsCAA
NM_001374689.1:c.184_186delinsCAA	NP_001361618.1:n.184_186delinsCAA
NM_001374690.1:c.184_186delinsCAA	NP_001361619.1:n.184_186delinsCAA
NM_001374691.1:c.184_186delinsCAA	NP_001361620.1:n.184_186delinsCAA
NM_001374692.1:c.184_186delinsCAA	NP_001361621.1:n.184_186delinsCAA
NM_001374693.1:c.184_186delinsCAA	NP_001361622.1:n.184_186delinsCAA
NM_001374695.1:c.184_186delinsCAA	NP_001361624.1:n.184_186delinsCAA
NM_007171.4:c.184_186delinsCAA	NP_009102.4:n.184_186delinsCAA
NR_148391.2:n.2277-57_2277-55delinsCAA
NR_148392.2:n.2495-57_2495-55delinsCAA
NR_148393.2:n.2535_2537delinsCAA
NR_148394.2:n.2289_2291delinsCAA
NR_148395.2:n.2687_2689delinsCAA
NR_148396.2:n.2321_2323delinsCAA
NR_148397.2:n.2446_2448delinsCAA
NR_148398.2:n.2401_2403delinsCAA
NR_148399.2:n.2808-57_2808-55delinsCAA
NR_148400.2:n.2526_2528delinsCAA

HGVS	Amino-acid change
ENST00000341012.13:c.184_186delinsCAA	ENSP00000343034.7:n.184_186delinsCAA
ENST00000404875.7:n.2902_2904delinsCAA
ENST00000677295.2:c.2706_2708delinsCAA	ENSP00000504346.2:n.2706_2708delinsCAA
ENST00000678264.2:c.2545_2547delinsCAA	ENSP00000503157.2:n.2545_2547delinsCAA
ENST00000682070.1:n.2672_2674delinsCAA
ENST00000682639.1:c.239+120_239+122delinsCAA
ENST00000682813.1:n.2759_2761delinsCAA
ENST00000683231.1:c.240-28_240-26delinsCAA
ENST00000683392.1:n.4954_4956delinsCAA
ENST00000683900.1:n.4262_4264delinsCAA
ENST00000684062.1:n.3028_3030delinsCAA
ENST00000684399.1:c.240-63_240-61delinsCAA
ENST00000684579.1:n.4208_4210delinsCAA
ENST00000341012.12:c.184_186delinsCAA	ENSP00000343034.7:n.184_186delinsCAA
ENST00000372220.5:c.184_186delinsCAA	ENSP00000361294.5:n.184_186delinsCAA
ENST00000372228.9:c.184_186delinsCAA	ENSP00000361302.3:n.184_186delinsCAA
ENST00000402686.8:c.184_186delinsCAA MANE Select	ENSP00000385797.4:n.184_186delinsCAA
ENST00000676640.1:c.184_186delinsCAA	ENSP00000503281.1:n.184_186delinsCAA
ENST00000676803.1:c.184_186delinsCAA	ENSP00000503093.1:n.184_186delinsCAA
ENST00000676835.1:c.1577_1579delinsCAA	ENSP00000502911.1:n.1577_1579delinsCAA
ENST00000677029.1:c.184_186delinsCAA	ENSP00000502936.1:n.184_186delinsCAA
ENST00000677099.1:c.2072_2074delinsCAA	ENSP00000504553.1:n.2072_2074delinsCAA
ENST00000677216.1:c.184_186delinsCAA	ENSP00000503772.1:n.184_186delinsCAA
ENST00000677295.1:c.1584_1586delinsCAA	ENSP00000504346.1:n.1584_1586delinsCAA
ENST00000677444.1:c.2307_2309delinsCAA
ENST00000677626.1:c.184_186delinsCAA	ENSP00000503552.1:n.184_186delinsCAA
ENST00000677853.1:c.1370_1372delinsCAA	ENSP00000503488.1:n.1370_1372delinsCAA
ENST00000678303.1:c.184_186delinsCAA	ENSP00000503696.1:n.184_186delinsCAA
ENST00000678366.1:c.2611_2613delinsCAA	ENSP00000504353.1:n.2611_2613delinsCAA
ENST00000678546.1:c.2307_2309delinsCAA	ENSP00000503062.1:n.2307_2309delinsCAA
ENST00000678548.1:c.2501_2503delinsCAA	ENSP00000503934.1:n.2501_2503delinsCAA
ENST00000678626.1:n.2198_2200delinsCAA
ENST00000678739.1:c.2528_2530delinsCAA	ENSP00000503806.1:n.2528_2530delinsCAA
ENST00000678833.1:c.2114_2116delinsCAA	ENSP00000503893.1:n.2114_2116delinsCAA
ENST00000679023.1:c.65-57_65-55delinsCAA	ENSP00000503718.1:n.65-57_65-55delinsCA...
ENST00000679076.1:c.1981_1983delinsCAA
ENST00000679111.1:c.1118_1120delinsCAA	ENSP00000504257.1:n.1118_1120delinsCAA
ENST00000341012.11:c.184_186delinsCAA	ENSP00000343034.7:n.184_186delinsCAA
ENST00000372220.4:c.1225_1227delinsCAA	ENSP00000361294.4:n.1225_1227delinsCAA
ENST00000372228.7:c.184_186delinsCAA	ENSP00000361302.3:n.184_186delinsCAA
ENST00000402686.7:c.184_186delinsCAA	ENSP00000385797.3:n.184_186delinsCAA
ENST00000404875.6:c.184_186delinsCAA	ENSP00000384531.2:n.184_186delinsCAA
ENST00000423007.5:c.184_186delinsCAA	ENSP00000404119.1:n.184_186delinsCAA
ENST00000485278.5:n.2912_2914delinsCAA
NM_001077365.1:c.184_186delinsCAA	NP_001070833.1:n.184_186delinsCAA
NM_001077366.1:c.184_186delinsCAA	NP_001070834.1:n.184_186delinsCAA
NM_001136113.1:c.184_186delinsCAA	NP_001129585.1:n.184_186delinsCAA
NM_001136114.1:c.184_186delinsCAA	NP_001129586.1:n.184_186delinsCAA
NM_007171.3:c.184_186delinsCAA	NP_009102.3:n.184_186delinsCAA
XM_005272156.1:c.184_186delinsCAA	XP_005272213.1:n.184_186delinsCAA
XM_005272158.1:c.184_186delinsCAA	XP_005272215.1:n.184_186delinsCAA
XM_005272159.1:c.184_186delinsCAA	XP_005272216.1:n.184_186delinsCAA
XM_005272162.1:c.184_186delinsCAA	XP_005272219.1:n.184_186delinsCAA
XM_006716932.1:c.184_186delinsCAA	XP_006716995.1:n.184_186delinsCAA
XM_011518140.1:c.184_186delinsCAA	XP_011516442.1:n.184_186delinsCAA
XM_011518141.1:c.184_186delinsCAA	XP_011516443.1:n.184_186delinsCAA
XM_011518142.1:c.184_186delinsCAA	XP_011516444.1:n.184_186delinsCAA
XM_011518143.1:c.184_186delinsCAA	XP_011516445.1:n.184_186delinsCAA
XM_011518145.1:c.184_186delinsCAA	XP_011516447.1:n.184_186delinsCAA
XM_011518147.1:c.184_186delinsCAA	XP_011516449.1:n.184_186delinsCAA
XR_929703.1:n.2485-57_2485-55delinsCAA
NM_001353193.1:c.184_186delinsCAA	NP_001340122.1:n.184_186delinsCAA
NM_001353194.1:c.184_186delinsCAA	NP_001340123.1:n.184_186delinsCAA
NM_001353195.1:c.184_186delinsCAA	NP_001340124.1:n.184_186delinsCAA
NM_001353196.1:c.184_186delinsCAA	NP_001340125.1:n.184_186delinsCAA
NM_001353197.1:c.184_186delinsCAA	NP_001340126.1:n.184_186delinsCAA
NM_001353198.1:c.184_186delinsCAA	NP_001340127.1:n.184_186delinsCAA
NM_001353199.1:c.184_186delinsCAA	NP_001340128.1:n.184_186delinsCAA
NM_001353200.1:c.184_186delinsCAA	NP_001340129.1:n.184_186delinsCAA
NR_148391.1:n.2293-57_2293-55delinsCAA
NR_148392.1:n.2511-57_2511-55delinsCAA
NR_148393.1:n.2551_2553delinsCAA
NR_148394.1:n.2305_2307delinsCAA
NR_148395.1:n.2703_2705delinsCAA
NR_148396.1:n.2337_2339delinsCAA
NR_148397.1:n.2462_2464delinsCAA
NR_148398.1:n.2417_2419delinsCAA
NR_148399.1:n.2824-57_2824-55delinsCAA
NR_148400.1:n.2542_2544delinsCAA
XM_005272162.3:c.184_186delinsCAA	XP_005272219.1:n.184_186delinsCAA
XM_006716932.2:c.184_186delinsCAA	XP_006716995.1:n.184_186delinsCAA
XM_011518140.2:c.184_186delinsCAA	XP_011516442.1:n.184_186delinsCAA
XM_011518141.2:c.184_186delinsCAA	XP_011516443.1:n.184_186delinsCAA
XM_011518142.2:c.184_186delinsCAA	XP_011516444.1:n.184_186delinsCAA
XM_011518143.2:c.184_186delinsCAA	XP_011516445.1:n.184_186delinsCAA
XM_011518145.2:c.184_186delinsCAA	XP_011516447.1:n.184_186delinsCAA
XM_017014205.2:c.184_186delinsCAA	XP_016869694.1:n.184_186delinsCAA
XM_024447380.1:c.184_186delinsCAA	XP_024303148.1:n.184_186delinsCAA
XM_024447381.1:c.184_186delinsCAA	XP_024303149.1:n.184_186delinsCAA
XM_024447382.1:c.184_186delinsCAA	XP_024303150.1:n.184_186delinsCAA
XR_001746160.2:n.2413-57_2413-55delinsCAA
XR_001746162.2:n.2737_2739delinsCAA
XR_001746164.1:n.2454_2456delinsCAA
XR_001746166.2:n.2630-57_2630-55delinsCAA
NM_001077365.2:c.184_186delinsCAA MANE Select	NP_001070833.1:n.184_186delinsCAA
NM_001077366.2:c.184_186delinsCAA	NP_001070834.1:n.184_186delinsCAA
NM_001136113.2:c.184_186delinsCAA	NP_001129585.1:n.184_186delinsCAA
NM_001136114.2:c.184_186delinsCAA	NP_001129586.1:n.184_186delinsCAA
NM_001353193.2:c.184_186delinsCAA	NP_001340122.2:n.184_186delinsCAA
NM_001353194.2:c.184_186delinsCAA	NP_001340123.1:n.184_186delinsCAA
NM_001353195.2:c.184_186delinsCAA	NP_001340124.1:n.184_186delinsCAA
NM_001353196.2:c.184_186delinsCAA	NP_001340125.1:n.184_186delinsCAA
NM_001353197.2:c.184_186delinsCAA	NP_001340126.2:n.184_186delinsCAA
NM_001353198.2:c.184_186delinsCAA	NP_001340127.2:n.184_186delinsCAA
NM_001353199.2:c.184_186delinsCAA	NP_001340128.2:n.184_186delinsCAA
NM_001353200.2:c.184_186delinsCAA	NP_001340129.1:n.184_186delinsCAA
NM_001374689.1:c.184_186delinsCAA	NP_001361618.1:n.184_186delinsCAA
NM_001374690.1:c.184_186delinsCAA	NP_001361619.1:n.184_186delinsCAA
NM_001374691.1:c.184_186delinsCAA	NP_001361620.1:n.184_186delinsCAA
NM_001374692.1:c.184_186delinsCAA	NP_001361621.1:n.184_186delinsCAA
NM_001374693.1:c.184_186delinsCAA	NP_001361622.1:n.184_186delinsCAA
NM_001374695.1:c.184_186delinsCAA	NP_001361624.1:n.184_186delinsCAA
NM_007171.4:c.184_186delinsCAA	NP_009102.4:n.184_186delinsCAA
NR_148391.2:n.2277-57_2277-55delinsCAA
NR_148392.2:n.2495-57_2495-55delinsCAA
NR_148393.2:n.2535_2537delinsCAA
NR_148394.2:n.2289_2291delinsCAA
NR_148395.2:n.2687_2689delinsCAA
NR_148396.2:n.2321_2323delinsCAA
NR_148397.2:n.2446_2448delinsCAA
NR_148398.2:n.2401_2403delinsCAA
NR_148399.2:n.2808-57_2808-55delinsCAA
NR_148400.2:n.2526_2528delinsCAA