Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523465_131523468delinsTGGA , CM000671.2:g.131523465_131523468delinsTGGA	GRCh38
NC_000009.11:g.134398852_134398855delinsTGGA , CM000671.1:g.134398852_134398855delinsTGGA	GRCh37
NC_000009.10:g.133388673_133388676delinsTGGA	NCBI36
NG_008896.1:g.25564_25567delinsTGGA
NG_008896.2:g.25564_25567delinsTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.359_362delinsTGGA	ENSP00000343034.7:n.359_362delinsTGGA
ENST00000404875.7:n.3077_3080delinsTGGA
ENST00000677295.2:c.2881_2884delinsTGGA	ENSP00000504346.2:n.2881_2884delinsTGGA
ENST00000678264.2:c.2720_2723delinsTGGA	ENSP00000503157.2:n.2720_2723delinsTGGA
ENST00000682070.1:n.2847_2850delinsTGGA
ENST00000682639.1:c.242_245delinsTGGA
ENST00000682813.1:n.2934_2937delinsTGGA
ENST00000683231.1:c.387_390delinsTGGA
ENST00000683392.1:n.5129_5132delinsTGGA
ENST00000683900.1:n.4437_4440delinsTGGA
ENST00000684062.1:n.3203_3206delinsTGGA
ENST00000684399.1:c.352_355delinsTGGA
ENST00000684579.1:n.4383_4386delinsTGGA
ENST00000341012.12:c.359_362delinsTGGA	ENSP00000343034.7:n.359_362delinsTGGA
ENST00000372220.5:c.359_362delinsTGGA	ENSP00000361294.5:n.359_362delinsTGGA
ENST00000372228.9:c.359_362delinsTGGA	ENSP00000361302.3:n.359_362delinsTGGA
ENST00000402686.8:c.359_362delinsTGGA MANE Select	ENSP00000385797.4:n.359_362delinsTGGA
ENST00000676640.1:c.359_362delinsTGGA	ENSP00000503281.1:n.359_362delinsTGGA
ENST00000676803.1:c.359_362delinsTGGA	ENSP00000503093.1:n.359_362delinsTGGA
ENST00000676835.1:c.1752_1755delinsTGGA	ENSP00000502911.1:n.1752_1755delinsTGGA
ENST00000677099.1:c.2247_2250delinsTGGA	ENSP00000504553.1:n.2247_2250delinsTGGA
ENST00000677295.1:c.1759_1762delinsTGGA	ENSP00000504346.1:n.1759_1762delinsTGGA
ENST00000677444.1:c.2482_2485delinsTGGA
ENST00000677626.1:c.359_362delinsTGGA	ENSP00000503552.1:n.359_362delinsTGGA
ENST00000677853.1:c.1545_1548delinsTGGA	ENSP00000503488.1:n.1545_1548delinsTGGA
ENST00000678366.1:c.2786_2789delinsTGGA	ENSP00000504353.1:n.2786_2789delinsTGGA
ENST00000678546.1:c.2482_2485delinsTGGA	ENSP00000503062.1:n.2482_2485delinsTGGA
ENST00000678548.1:c.2676_2679delinsTGGA	ENSP00000503934.1:n.2676_2679delinsTGGA
ENST00000678626.1:n.2373_2376delinsTGGA
ENST00000678739.1:c.2703_2706delinsTGGA	ENSP00000503806.1:n.2703_2706delinsTGGA
ENST00000678833.1:c.2289_2292delinsTGGA	ENSP00000503893.1:n.2289_2292delinsTGGA
ENST00000679023.1:c.183_186delinsTGGA	ENSP00000503718.1:n.183_186delinsTGGA
ENST00000679076.1:c.2156_2159delinsTGGA
ENST00000679111.1:c.1293_1296delinsTGGA	ENSP00000504257.1:n.1293_1296delinsTGGA
ENST00000341012.11:c.359_362delinsTGGA	ENSP00000343034.7:n.359_362delinsTGGA
ENST00000372220.4:c.1400_1403delinsTGGA	ENSP00000361294.4:n.1400_1403delinsTGGA
ENST00000372228.7:c.359_362delinsTGGA	ENSP00000361302.3:n.359_362delinsTGGA
ENST00000402686.7:c.359_362delinsTGGA	ENSP00000385797.3:n.359_362delinsTGGA
ENST00000404875.6:c.359_362delinsTGGA	ENSP00000384531.2:n.359_362delinsTGGA
ENST00000423007.5:c.359_362delinsTGGA	ENSP00000404119.1:n.359_362delinsTGGA
ENST00000485278.5:n.3087_3090delinsTGGA
NM_001077365.1:c.359_362delinsTGGA	NP_001070833.1:n.359_362delinsTGGA
NM_001077366.1:c.359_362delinsTGGA	NP_001070834.1:n.359_362delinsTGGA
NM_001136113.1:c.359_362delinsTGGA	NP_001129585.1:n.359_362delinsTGGA
NM_001136114.1:c.359_362delinsTGGA	NP_001129586.1:n.359_362delinsTGGA
NM_007171.3:c.359_362delinsTGGA	NP_009102.3:n.359_362delinsTGGA
XM_005272156.1:c.359_362delinsTGGA	XP_005272213.1:n.359_362delinsTGGA
XM_005272158.1:c.359_362delinsTGGA	XP_005272215.1:n.359_362delinsTGGA
XM_005272159.1:c.359_362delinsTGGA	XP_005272216.1:n.359_362delinsTGGA
XM_005272162.1:c.359_362delinsTGGA	XP_005272219.1:n.359_362delinsTGGA
XM_006716932.1:c.359_362delinsTGGA	XP_006716995.1:n.359_362delinsTGGA
XM_011518140.1:c.359_362delinsTGGA	XP_011516442.1:n.359_362delinsTGGA
XM_011518141.1:c.359_362delinsTGGA	XP_011516443.1:n.359_362delinsTGGA
XM_011518142.1:c.359_362delinsTGGA	XP_011516444.1:n.359_362delinsTGGA
XM_011518143.1:c.359_362delinsTGGA	XP_011516445.1:n.359_362delinsTGGA
XM_011518145.1:c.359_362delinsTGGA	XP_011516447.1:n.359_362delinsTGGA
XM_011518147.1:c.359_362delinsTGGA	XP_011516449.1:n.359_362delinsTGGA
XR_929703.1:n.2603_2606delinsTGGA
NM_001353193.1:c.359_362delinsTGGA	NP_001340122.1:n.359_362delinsTGGA
NM_001353194.1:c.359_362delinsTGGA	NP_001340123.1:n.359_362delinsTGGA
NM_001353195.1:c.359_362delinsTGGA	NP_001340124.1:n.359_362delinsTGGA
NM_001353196.1:c.359_362delinsTGGA	NP_001340125.1:n.359_362delinsTGGA
NM_001353197.1:c.359_362delinsTGGA	NP_001340126.1:n.359_362delinsTGGA
NM_001353198.1:c.359_362delinsTGGA	NP_001340127.1:n.359_362delinsTGGA
NM_001353199.1:c.359_362delinsTGGA	NP_001340128.1:n.359_362delinsTGGA
NM_001353200.1:c.359_362delinsTGGA	NP_001340129.1:n.359_362delinsTGGA
NR_148391.1:n.2411_2414delinsTGGA
NR_148392.1:n.2629_2632delinsTGGA
NR_148393.1:n.2726_2729delinsTGGA
NR_148394.1:n.2480_2483delinsTGGA
NR_148395.1:n.2878_2881delinsTGGA
NR_148396.1:n.2512_2515delinsTGGA
NR_148397.1:n.2637_2640delinsTGGA
NR_148398.1:n.2592_2595delinsTGGA
NR_148399.1:n.2942_2945delinsTGGA
NR_148400.1:n.2717_2720delinsTGGA
XM_005272162.3:c.359_362delinsTGGA	XP_005272219.1:n.359_362delinsTGGA
XM_006716932.2:c.359_362delinsTGGA	XP_006716995.1:n.359_362delinsTGGA
XM_011518140.2:c.359_362delinsTGGA	XP_011516442.1:n.359_362delinsTGGA
XM_011518141.2:c.359_362delinsTGGA	XP_011516443.1:n.359_362delinsTGGA
XM_011518142.2:c.359_362delinsTGGA	XP_011516444.1:n.359_362delinsTGGA
XM_011518143.2:c.359_362delinsTGGA	XP_011516445.1:n.359_362delinsTGGA
XM_011518145.2:c.359_362delinsTGGA	XP_011516447.1:n.359_362delinsTGGA
XM_017014205.2:c.359_362delinsTGGA	XP_016869694.1:n.359_362delinsTGGA
XM_024447380.1:c.359_362delinsTGGA	XP_024303148.1:n.359_362delinsTGGA
XM_024447381.1:c.359_362delinsTGGA	XP_024303149.1:n.359_362delinsTGGA
XM_024447382.1:c.359_362delinsTGGA	XP_024303150.1:n.359_362delinsTGGA
XR_001746160.2:n.2531_2534delinsTGGA
XR_001746162.2:n.2912_2915delinsTGGA
XR_001746164.1:n.2629_2632delinsTGGA
XR_001746166.2:n.2748_2751delinsTGGA
NM_001077365.2:c.359_362delinsTGGA MANE Select	NP_001070833.1:n.359_362delinsTGGA
NM_001077366.2:c.359_362delinsTGGA	NP_001070834.1:n.359_362delinsTGGA
NM_001136113.2:c.359_362delinsTGGA	NP_001129585.1:n.359_362delinsTGGA
NM_001136114.2:c.359_362delinsTGGA	NP_001129586.1:n.359_362delinsTGGA
NM_001353193.2:c.359_362delinsTGGA	NP_001340122.2:n.359_362delinsTGGA
NM_001353194.2:c.359_362delinsTGGA	NP_001340123.1:n.359_362delinsTGGA
NM_001353195.2:c.359_362delinsTGGA	NP_001340124.1:n.359_362delinsTGGA
NM_001353196.2:c.359_362delinsTGGA	NP_001340125.1:n.359_362delinsTGGA
NM_001353197.2:c.359_362delinsTGGA	NP_001340126.2:n.359_362delinsTGGA
NM_001353198.2:c.359_362delinsTGGA	NP_001340127.2:n.359_362delinsTGGA
NM_001353199.2:c.359_362delinsTGGA	NP_001340128.2:n.359_362delinsTGGA
NM_001353200.2:c.359_362delinsTGGA	NP_001340129.1:n.359_362delinsTGGA
NM_001374689.1:c.359_362delinsTGGA	NP_001361618.1:n.359_362delinsTGGA
NM_001374690.1:c.359_362delinsTGGA	NP_001361619.1:n.359_362delinsTGGA
NM_001374691.1:c.359_362delinsTGGA	NP_001361620.1:n.359_362delinsTGGA
NM_001374692.1:c.359_362delinsTGGA	NP_001361621.1:n.359_362delinsTGGA
NM_001374693.1:c.359_362delinsTGGA	NP_001361622.1:n.359_362delinsTGGA
NM_001374695.1:c.359_362delinsTGGA	NP_001361624.1:n.359_362delinsTGGA
NM_007171.4:c.359_362delinsTGGA	NP_009102.4:n.359_362delinsTGGA
NR_148391.2:n.2395_2398delinsTGGA
NR_148392.2:n.2613_2616delinsTGGA
NR_148393.2:n.2710_2713delinsTGGA
NR_148394.2:n.2464_2467delinsTGGA
NR_148395.2:n.2862_2865delinsTGGA
NR_148396.2:n.2496_2499delinsTGGA
NR_148397.2:n.2621_2624delinsTGGA
NR_148398.2:n.2576_2579delinsTGGA
NR_148399.2:n.2926_2929delinsTGGA
NR_148400.2:n.2701_2704delinsTGGA

HGVS	Amino-acid Change
ENST00000341012.13:c.359_362delinsTGGA	ENSP00000343034.7:n.359_362delinsTGGA
ENST00000404875.7:n.3077_3080delinsTGGA
ENST00000677295.2:c.2881_2884delinsTGGA	ENSP00000504346.2:n.2881_2884delinsTGGA
ENST00000678264.2:c.2720_2723delinsTGGA	ENSP00000503157.2:n.2720_2723delinsTGGA
ENST00000682070.1:n.2847_2850delinsTGGA
ENST00000682639.1:c.242_245delinsTGGA
ENST00000682813.1:n.2934_2937delinsTGGA
ENST00000683231.1:c.387_390delinsTGGA
ENST00000683392.1:n.5129_5132delinsTGGA
ENST00000683900.1:n.4437_4440delinsTGGA
ENST00000684062.1:n.3203_3206delinsTGGA
ENST00000684399.1:c.352_355delinsTGGA
ENST00000684579.1:n.4383_4386delinsTGGA
ENST00000341012.12:c.359_362delinsTGGA	ENSP00000343034.7:n.359_362delinsTGGA
ENST00000372220.5:c.359_362delinsTGGA	ENSP00000361294.5:n.359_362delinsTGGA
ENST00000372228.9:c.359_362delinsTGGA	ENSP00000361302.3:n.359_362delinsTGGA
ENST00000402686.8:c.359_362delinsTGGA MANE Select	ENSP00000385797.4:n.359_362delinsTGGA
ENST00000676640.1:c.359_362delinsTGGA	ENSP00000503281.1:n.359_362delinsTGGA
ENST00000676803.1:c.359_362delinsTGGA	ENSP00000503093.1:n.359_362delinsTGGA
ENST00000676835.1:c.1752_1755delinsTGGA	ENSP00000502911.1:n.1752_1755delinsTGGA
ENST00000677099.1:c.2247_2250delinsTGGA	ENSP00000504553.1:n.2247_2250delinsTGGA
ENST00000677295.1:c.1759_1762delinsTGGA	ENSP00000504346.1:n.1759_1762delinsTGGA
ENST00000677444.1:c.2482_2485delinsTGGA
ENST00000677626.1:c.359_362delinsTGGA	ENSP00000503552.1:n.359_362delinsTGGA
ENST00000677853.1:c.1545_1548delinsTGGA	ENSP00000503488.1:n.1545_1548delinsTGGA
ENST00000678366.1:c.2786_2789delinsTGGA	ENSP00000504353.1:n.2786_2789delinsTGGA
ENST00000678546.1:c.2482_2485delinsTGGA	ENSP00000503062.1:n.2482_2485delinsTGGA
ENST00000678548.1:c.2676_2679delinsTGGA	ENSP00000503934.1:n.2676_2679delinsTGGA
ENST00000678626.1:n.2373_2376delinsTGGA
ENST00000678739.1:c.2703_2706delinsTGGA	ENSP00000503806.1:n.2703_2706delinsTGGA
ENST00000678833.1:c.2289_2292delinsTGGA	ENSP00000503893.1:n.2289_2292delinsTGGA
ENST00000679023.1:c.183_186delinsTGGA	ENSP00000503718.1:n.183_186delinsTGGA
ENST00000679076.1:c.2156_2159delinsTGGA
ENST00000679111.1:c.1293_1296delinsTGGA	ENSP00000504257.1:n.1293_1296delinsTGGA
ENST00000341012.11:c.359_362delinsTGGA	ENSP00000343034.7:n.359_362delinsTGGA
ENST00000372220.4:c.1400_1403delinsTGGA	ENSP00000361294.4:n.1400_1403delinsTGGA
ENST00000372228.7:c.359_362delinsTGGA	ENSP00000361302.3:n.359_362delinsTGGA
ENST00000402686.7:c.359_362delinsTGGA	ENSP00000385797.3:n.359_362delinsTGGA
ENST00000404875.6:c.359_362delinsTGGA	ENSP00000384531.2:n.359_362delinsTGGA
ENST00000423007.5:c.359_362delinsTGGA	ENSP00000404119.1:n.359_362delinsTGGA
ENST00000485278.5:n.3087_3090delinsTGGA
NM_001077365.1:c.359_362delinsTGGA	NP_001070833.1:n.359_362delinsTGGA
NM_001077366.1:c.359_362delinsTGGA	NP_001070834.1:n.359_362delinsTGGA
NM_001136113.1:c.359_362delinsTGGA	NP_001129585.1:n.359_362delinsTGGA
NM_001136114.1:c.359_362delinsTGGA	NP_001129586.1:n.359_362delinsTGGA
NM_007171.3:c.359_362delinsTGGA	NP_009102.3:n.359_362delinsTGGA
XM_005272156.1:c.359_362delinsTGGA	XP_005272213.1:n.359_362delinsTGGA
XM_005272158.1:c.359_362delinsTGGA	XP_005272215.1:n.359_362delinsTGGA
XM_005272159.1:c.359_362delinsTGGA	XP_005272216.1:n.359_362delinsTGGA
XM_005272162.1:c.359_362delinsTGGA	XP_005272219.1:n.359_362delinsTGGA
XM_006716932.1:c.359_362delinsTGGA	XP_006716995.1:n.359_362delinsTGGA
XM_011518140.1:c.359_362delinsTGGA	XP_011516442.1:n.359_362delinsTGGA
XM_011518141.1:c.359_362delinsTGGA	XP_011516443.1:n.359_362delinsTGGA
XM_011518142.1:c.359_362delinsTGGA	XP_011516444.1:n.359_362delinsTGGA
XM_011518143.1:c.359_362delinsTGGA	XP_011516445.1:n.359_362delinsTGGA
XM_011518145.1:c.359_362delinsTGGA	XP_011516447.1:n.359_362delinsTGGA
XM_011518147.1:c.359_362delinsTGGA	XP_011516449.1:n.359_362delinsTGGA
XR_929703.1:n.2603_2606delinsTGGA
NM_001353193.1:c.359_362delinsTGGA	NP_001340122.1:n.359_362delinsTGGA
NM_001353194.1:c.359_362delinsTGGA	NP_001340123.1:n.359_362delinsTGGA
NM_001353195.1:c.359_362delinsTGGA	NP_001340124.1:n.359_362delinsTGGA
NM_001353196.1:c.359_362delinsTGGA	NP_001340125.1:n.359_362delinsTGGA
NM_001353197.1:c.359_362delinsTGGA	NP_001340126.1:n.359_362delinsTGGA
NM_001353198.1:c.359_362delinsTGGA	NP_001340127.1:n.359_362delinsTGGA
NM_001353199.1:c.359_362delinsTGGA	NP_001340128.1:n.359_362delinsTGGA
NM_001353200.1:c.359_362delinsTGGA	NP_001340129.1:n.359_362delinsTGGA
NR_148391.1:n.2411_2414delinsTGGA
NR_148392.1:n.2629_2632delinsTGGA
NR_148393.1:n.2726_2729delinsTGGA
NR_148394.1:n.2480_2483delinsTGGA
NR_148395.1:n.2878_2881delinsTGGA
NR_148396.1:n.2512_2515delinsTGGA
NR_148397.1:n.2637_2640delinsTGGA
NR_148398.1:n.2592_2595delinsTGGA
NR_148399.1:n.2942_2945delinsTGGA
NR_148400.1:n.2717_2720delinsTGGA
XM_005272162.3:c.359_362delinsTGGA	XP_005272219.1:n.359_362delinsTGGA
XM_006716932.2:c.359_362delinsTGGA	XP_006716995.1:n.359_362delinsTGGA
XM_011518140.2:c.359_362delinsTGGA	XP_011516442.1:n.359_362delinsTGGA
XM_011518141.2:c.359_362delinsTGGA	XP_011516443.1:n.359_362delinsTGGA
XM_011518142.2:c.359_362delinsTGGA	XP_011516444.1:n.359_362delinsTGGA
XM_011518143.2:c.359_362delinsTGGA	XP_011516445.1:n.359_362delinsTGGA
XM_011518145.2:c.359_362delinsTGGA	XP_011516447.1:n.359_362delinsTGGA
XM_017014205.2:c.359_362delinsTGGA	XP_016869694.1:n.359_362delinsTGGA
XM_024447380.1:c.359_362delinsTGGA	XP_024303148.1:n.359_362delinsTGGA
XM_024447381.1:c.359_362delinsTGGA	XP_024303149.1:n.359_362delinsTGGA
XM_024447382.1:c.359_362delinsTGGA	XP_024303150.1:n.359_362delinsTGGA
XR_001746160.2:n.2531_2534delinsTGGA
XR_001746162.2:n.2912_2915delinsTGGA
XR_001746164.1:n.2629_2632delinsTGGA
XR_001746166.2:n.2748_2751delinsTGGA
NM_001077365.2:c.359_362delinsTGGA MANE Select	NP_001070833.1:n.359_362delinsTGGA
NM_001077366.2:c.359_362delinsTGGA	NP_001070834.1:n.359_362delinsTGGA
NM_001136113.2:c.359_362delinsTGGA	NP_001129585.1:n.359_362delinsTGGA
NM_001136114.2:c.359_362delinsTGGA	NP_001129586.1:n.359_362delinsTGGA
NM_001353193.2:c.359_362delinsTGGA	NP_001340122.2:n.359_362delinsTGGA
NM_001353194.2:c.359_362delinsTGGA	NP_001340123.1:n.359_362delinsTGGA
NM_001353195.2:c.359_362delinsTGGA	NP_001340124.1:n.359_362delinsTGGA
NM_001353196.2:c.359_362delinsTGGA	NP_001340125.1:n.359_362delinsTGGA
NM_001353197.2:c.359_362delinsTGGA	NP_001340126.2:n.359_362delinsTGGA
NM_001353198.2:c.359_362delinsTGGA	NP_001340127.2:n.359_362delinsTGGA
NM_001353199.2:c.359_362delinsTGGA	NP_001340128.2:n.359_362delinsTGGA
NM_001353200.2:c.359_362delinsTGGA	NP_001340129.1:n.359_362delinsTGGA
NM_001374689.1:c.359_362delinsTGGA	NP_001361618.1:n.359_362delinsTGGA
NM_001374690.1:c.359_362delinsTGGA	NP_001361619.1:n.359_362delinsTGGA
NM_001374691.1:c.359_362delinsTGGA	NP_001361620.1:n.359_362delinsTGGA
NM_001374692.1:c.359_362delinsTGGA	NP_001361621.1:n.359_362delinsTGGA
NM_001374693.1:c.359_362delinsTGGA	NP_001361622.1:n.359_362delinsTGGA
NM_001374695.1:c.359_362delinsTGGA	NP_001361624.1:n.359_362delinsTGGA
NM_007171.4:c.359_362delinsTGGA	NP_009102.4:n.359_362delinsTGGA
NR_148391.2:n.2395_2398delinsTGGA
NR_148392.2:n.2613_2616delinsTGGA
NR_148393.2:n.2710_2713delinsTGGA
NR_148394.2:n.2464_2467delinsTGGA
NR_148395.2:n.2862_2865delinsTGGA
NR_148396.2:n.2496_2499delinsTGGA
NR_148397.2:n.2621_2624delinsTGGA
NR_148398.2:n.2576_2579delinsTGGA
NR_148399.2:n.2926_2929delinsTGGA
NR_148400.2:n.2701_2704delinsTGGA