Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523335_131523336insAA , CM000671.2:g.131523335_131523336insAA	GRCh38
NC_000009.11:g.134398722_134398723insAA , CM000671.1:g.134398722_134398723insAA	GRCh37
NC_000009.10:g.133388543_133388544insAA	NCBI36
NG_008896.1:g.25434_25435insAA
NG_008896.2:g.25434_25435insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.229_230insAA	ENSP00000343034.7:n.229_230insAA
ENST00000404875.7:n.2947_2948insAA
ENST00000677295.2:c.2751_2752insAA	ENSP00000504346.2:n.2751_2752insAA
ENST00000678264.2:c.2590_2591insAA	ENSP00000503157.2:n.2590_2591insAA
ENST00000682070.1:n.2717_2718insAA
ENST00000682639.1:c.240-128_240-127insAA
ENST00000682813.1:n.2804_2805insAA
ENST00000683231.1:c.257_258insAA
ENST00000683392.1:n.4999_5000insAA
ENST00000683900.1:n.4307_4308insAA
ENST00000684062.1:n.3073_3074insAA
ENST00000684399.1:c.240-18_240-17insAA
ENST00000684579.1:n.4253_4254insAA
ENST00000341012.12:c.229_230insAA	ENSP00000343034.7:n.229_230insAA
ENST00000372220.5:c.229_230insAA	ENSP00000361294.5:n.229_230insAA
ENST00000372228.9:c.229_230insAA	ENSP00000361302.3:n.229_230insAA
ENST00000402686.8:c.229_230insAA MANE Select	ENSP00000385797.4:n.229_230insAA
ENST00000676640.1:c.229_230insAA	ENSP00000503281.1:n.229_230insAA
ENST00000676803.1:c.229_230insAA	ENSP00000503093.1:n.229_230insAA
ENST00000676835.1:c.1622_1623insAA	ENSP00000502911.1:n.1622_1623insAA
ENST00000677029.1:c.229_230insAA	ENSP00000502936.1:n.229_230insAA
ENST00000677099.1:c.2117_2118insAA	ENSP00000504553.1:n.2117_2118insAA
ENST00000677216.1:c.229_230insAA	ENSP00000503772.1:n.229_230insAA
ENST00000677295.1:c.1629_1630insAA	ENSP00000504346.1:n.1629_1630insAA
ENST00000677444.1:c.2352_2353insAA
ENST00000677626.1:c.229_230insAA	ENSP00000503552.1:n.229_230insAA
ENST00000677853.1:c.1415_1416insAA	ENSP00000503488.1:n.1415_1416insAA
ENST00000678303.1:c.229_230insAA	ENSP00000503696.1:n.229_230insAA
ENST00000678366.1:c.2656_2657insAA	ENSP00000504353.1:n.2656_2657insAA
ENST00000678546.1:c.2352_2353insAA	ENSP00000503062.1:n.2352_2353insAA
ENST00000678548.1:c.2546_2547insAA	ENSP00000503934.1:n.2546_2547insAA
ENST00000678626.1:n.2243_2244insAA
ENST00000678739.1:c.2573_2574insAA	ENSP00000503806.1:n.2573_2574insAA
ENST00000678833.1:c.2159_2160insAA	ENSP00000503893.1:n.2159_2160insAA
ENST00000679023.1:c.65-12_65-11insAA	ENSP00000503718.1:n.65-12_65-11insAA
ENST00000679076.1:c.2026_2027insAA
ENST00000679111.1:c.1163_1164insAA	ENSP00000504257.1:n.1163_1164insAA
ENST00000341012.11:c.229_230insAA	ENSP00000343034.7:n.229_230insAA
ENST00000372220.4:c.1270_1271insAA	ENSP00000361294.4:n.1270_1271insAA
ENST00000372228.7:c.229_230insAA	ENSP00000361302.3:n.229_230insAA
ENST00000402686.7:c.229_230insAA	ENSP00000385797.3:n.229_230insAA
ENST00000404875.6:c.229_230insAA	ENSP00000384531.2:n.229_230insAA
ENST00000423007.5:c.229_230insAA	ENSP00000404119.1:n.229_230insAA
ENST00000485278.5:n.2957_2958insAA
NM_001077365.1:c.229_230insAA	NP_001070833.1:n.229_230insAA
NM_001077366.1:c.229_230insAA	NP_001070834.1:n.229_230insAA
NM_001136113.1:c.229_230insAA	NP_001129585.1:n.229_230insAA
NM_001136114.1:c.229_230insAA	NP_001129586.1:n.229_230insAA
NM_007171.3:c.229_230insAA	NP_009102.3:n.229_230insAA
XM_005272156.1:c.229_230insAA	XP_005272213.1:n.229_230insAA
XM_005272158.1:c.229_230insAA	XP_005272215.1:n.229_230insAA
XM_005272159.1:c.229_230insAA	XP_005272216.1:n.229_230insAA
XM_005272162.1:c.229_230insAA	XP_005272219.1:n.229_230insAA
XM_006716932.1:c.229_230insAA	XP_006716995.1:n.229_230insAA
XM_011518140.1:c.229_230insAA	XP_011516442.1:n.229_230insAA
XM_011518141.1:c.229_230insAA	XP_011516443.1:n.229_230insAA
XM_011518142.1:c.229_230insAA	XP_011516444.1:n.229_230insAA
XM_011518143.1:c.229_230insAA	XP_011516445.1:n.229_230insAA
XM_011518145.1:c.229_230insAA	XP_011516447.1:n.229_230insAA
XM_011518147.1:c.229_230insAA	XP_011516449.1:n.229_230insAA
XR_929703.1:n.2485-12_2485-11insAA
NM_001353193.1:c.229_230insAA	NP_001340122.1:n.229_230insAA
NM_001353194.1:c.229_230insAA	NP_001340123.1:n.229_230insAA
NM_001353195.1:c.229_230insAA	NP_001340124.1:n.229_230insAA
NM_001353196.1:c.229_230insAA	NP_001340125.1:n.229_230insAA
NM_001353197.1:c.229_230insAA	NP_001340126.1:n.229_230insAA
NM_001353198.1:c.229_230insAA	NP_001340127.1:n.229_230insAA
NM_001353199.1:c.229_230insAA	NP_001340128.1:n.229_230insAA
NM_001353200.1:c.229_230insAA	NP_001340129.1:n.229_230insAA
NR_148391.1:n.2293-12_2293-11insAA
NR_148392.1:n.2511-12_2511-11insAA
NR_148393.1:n.2596_2597insAA
NR_148394.1:n.2350_2351insAA
NR_148395.1:n.2748_2749insAA
NR_148396.1:n.2382_2383insAA
NR_148397.1:n.2507_2508insAA
NR_148398.1:n.2462_2463insAA
NR_148399.1:n.2824-12_2824-11insAA
NR_148400.1:n.2587_2588insAA
XM_005272162.3:c.229_230insAA	XP_005272219.1:n.229_230insAA
XM_006716932.2:c.229_230insAA	XP_006716995.1:n.229_230insAA
XM_011518140.2:c.229_230insAA	XP_011516442.1:n.229_230insAA
XM_011518141.2:c.229_230insAA	XP_011516443.1:n.229_230insAA
XM_011518142.2:c.229_230insAA	XP_011516444.1:n.229_230insAA
XM_011518143.2:c.229_230insAA	XP_011516445.1:n.229_230insAA
XM_011518145.2:c.229_230insAA	XP_011516447.1:n.229_230insAA
XM_017014205.2:c.229_230insAA	XP_016869694.1:n.229_230insAA
XM_024447380.1:c.229_230insAA	XP_024303148.1:n.229_230insAA
XM_024447381.1:c.229_230insAA	XP_024303149.1:n.229_230insAA
XM_024447382.1:c.229_230insAA	XP_024303150.1:n.229_230insAA
XR_001746160.2:n.2413-12_2413-11insAA
XR_001746162.2:n.2782_2783insAA
XR_001746164.1:n.2499_2500insAA
XR_001746166.2:n.2630-12_2630-11insAA
NM_001077365.2:c.229_230insAA MANE Select	NP_001070833.1:n.229_230insAA
NM_001077366.2:c.229_230insAA	NP_001070834.1:n.229_230insAA
NM_001136113.2:c.229_230insAA	NP_001129585.1:n.229_230insAA
NM_001136114.2:c.229_230insAA	NP_001129586.1:n.229_230insAA
NM_001353193.2:c.229_230insAA	NP_001340122.2:n.229_230insAA
NM_001353194.2:c.229_230insAA	NP_001340123.1:n.229_230insAA
NM_001353195.2:c.229_230insAA	NP_001340124.1:n.229_230insAA
NM_001353196.2:c.229_230insAA	NP_001340125.1:n.229_230insAA
NM_001353197.2:c.229_230insAA	NP_001340126.2:n.229_230insAA
NM_001353198.2:c.229_230insAA	NP_001340127.2:n.229_230insAA
NM_001353199.2:c.229_230insAA	NP_001340128.2:n.229_230insAA
NM_001353200.2:c.229_230insAA	NP_001340129.1:n.229_230insAA
NM_001374689.1:c.229_230insAA	NP_001361618.1:n.229_230insAA
NM_001374690.1:c.229_230insAA	NP_001361619.1:n.229_230insAA
NM_001374691.1:c.229_230insAA	NP_001361620.1:n.229_230insAA
NM_001374692.1:c.229_230insAA	NP_001361621.1:n.229_230insAA
NM_001374693.1:c.229_230insAA	NP_001361622.1:n.229_230insAA
NM_001374695.1:c.229_230insAA	NP_001361624.1:n.229_230insAA
NM_007171.4:c.229_230insAA	NP_009102.4:n.229_230insAA
NR_148391.2:n.2277-12_2277-11insAA
NR_148392.2:n.2495-12_2495-11insAA
NR_148393.2:n.2580_2581insAA
NR_148394.2:n.2334_2335insAA
NR_148395.2:n.2732_2733insAA
NR_148396.2:n.2366_2367insAA
NR_148397.2:n.2491_2492insAA
NR_148398.2:n.2446_2447insAA
NR_148399.2:n.2808-12_2808-11insAA
NR_148400.2:n.2571_2572insAA

HGVS	Amino-acid Change
ENST00000341012.13:c.229_230insAA	ENSP00000343034.7:n.229_230insAA
ENST00000404875.7:n.2947_2948insAA
ENST00000677295.2:c.2751_2752insAA	ENSP00000504346.2:n.2751_2752insAA
ENST00000678264.2:c.2590_2591insAA	ENSP00000503157.2:n.2590_2591insAA
ENST00000682070.1:n.2717_2718insAA
ENST00000682639.1:c.240-128_240-127insAA
ENST00000682813.1:n.2804_2805insAA
ENST00000683231.1:c.257_258insAA
ENST00000683392.1:n.4999_5000insAA
ENST00000683900.1:n.4307_4308insAA
ENST00000684062.1:n.3073_3074insAA
ENST00000684399.1:c.240-18_240-17insAA
ENST00000684579.1:n.4253_4254insAA
ENST00000341012.12:c.229_230insAA	ENSP00000343034.7:n.229_230insAA
ENST00000372220.5:c.229_230insAA	ENSP00000361294.5:n.229_230insAA
ENST00000372228.9:c.229_230insAA	ENSP00000361302.3:n.229_230insAA
ENST00000402686.8:c.229_230insAA MANE Select	ENSP00000385797.4:n.229_230insAA
ENST00000676640.1:c.229_230insAA	ENSP00000503281.1:n.229_230insAA
ENST00000676803.1:c.229_230insAA	ENSP00000503093.1:n.229_230insAA
ENST00000676835.1:c.1622_1623insAA	ENSP00000502911.1:n.1622_1623insAA
ENST00000677029.1:c.229_230insAA	ENSP00000502936.1:n.229_230insAA
ENST00000677099.1:c.2117_2118insAA	ENSP00000504553.1:n.2117_2118insAA
ENST00000677216.1:c.229_230insAA	ENSP00000503772.1:n.229_230insAA
ENST00000677295.1:c.1629_1630insAA	ENSP00000504346.1:n.1629_1630insAA
ENST00000677444.1:c.2352_2353insAA
ENST00000677626.1:c.229_230insAA	ENSP00000503552.1:n.229_230insAA
ENST00000677853.1:c.1415_1416insAA	ENSP00000503488.1:n.1415_1416insAA
ENST00000678303.1:c.229_230insAA	ENSP00000503696.1:n.229_230insAA
ENST00000678366.1:c.2656_2657insAA	ENSP00000504353.1:n.2656_2657insAA
ENST00000678546.1:c.2352_2353insAA	ENSP00000503062.1:n.2352_2353insAA
ENST00000678548.1:c.2546_2547insAA	ENSP00000503934.1:n.2546_2547insAA
ENST00000678626.1:n.2243_2244insAA
ENST00000678739.1:c.2573_2574insAA	ENSP00000503806.1:n.2573_2574insAA
ENST00000678833.1:c.2159_2160insAA	ENSP00000503893.1:n.2159_2160insAA
ENST00000679023.1:c.65-12_65-11insAA	ENSP00000503718.1:n.65-12_65-11insAA
ENST00000679076.1:c.2026_2027insAA
ENST00000679111.1:c.1163_1164insAA	ENSP00000504257.1:n.1163_1164insAA
ENST00000341012.11:c.229_230insAA	ENSP00000343034.7:n.229_230insAA
ENST00000372220.4:c.1270_1271insAA	ENSP00000361294.4:n.1270_1271insAA
ENST00000372228.7:c.229_230insAA	ENSP00000361302.3:n.229_230insAA
ENST00000402686.7:c.229_230insAA	ENSP00000385797.3:n.229_230insAA
ENST00000404875.6:c.229_230insAA	ENSP00000384531.2:n.229_230insAA
ENST00000423007.5:c.229_230insAA	ENSP00000404119.1:n.229_230insAA
ENST00000485278.5:n.2957_2958insAA
NM_001077365.1:c.229_230insAA	NP_001070833.1:n.229_230insAA
NM_001077366.1:c.229_230insAA	NP_001070834.1:n.229_230insAA
NM_001136113.1:c.229_230insAA	NP_001129585.1:n.229_230insAA
NM_001136114.1:c.229_230insAA	NP_001129586.1:n.229_230insAA
NM_007171.3:c.229_230insAA	NP_009102.3:n.229_230insAA
XM_005272156.1:c.229_230insAA	XP_005272213.1:n.229_230insAA
XM_005272158.1:c.229_230insAA	XP_005272215.1:n.229_230insAA
XM_005272159.1:c.229_230insAA	XP_005272216.1:n.229_230insAA
XM_005272162.1:c.229_230insAA	XP_005272219.1:n.229_230insAA
XM_006716932.1:c.229_230insAA	XP_006716995.1:n.229_230insAA
XM_011518140.1:c.229_230insAA	XP_011516442.1:n.229_230insAA
XM_011518141.1:c.229_230insAA	XP_011516443.1:n.229_230insAA
XM_011518142.1:c.229_230insAA	XP_011516444.1:n.229_230insAA
XM_011518143.1:c.229_230insAA	XP_011516445.1:n.229_230insAA
XM_011518145.1:c.229_230insAA	XP_011516447.1:n.229_230insAA
XM_011518147.1:c.229_230insAA	XP_011516449.1:n.229_230insAA
XR_929703.1:n.2485-12_2485-11insAA
NM_001353193.1:c.229_230insAA	NP_001340122.1:n.229_230insAA
NM_001353194.1:c.229_230insAA	NP_001340123.1:n.229_230insAA
NM_001353195.1:c.229_230insAA	NP_001340124.1:n.229_230insAA
NM_001353196.1:c.229_230insAA	NP_001340125.1:n.229_230insAA
NM_001353197.1:c.229_230insAA	NP_001340126.1:n.229_230insAA
NM_001353198.1:c.229_230insAA	NP_001340127.1:n.229_230insAA
NM_001353199.1:c.229_230insAA	NP_001340128.1:n.229_230insAA
NM_001353200.1:c.229_230insAA	NP_001340129.1:n.229_230insAA
NR_148391.1:n.2293-12_2293-11insAA
NR_148392.1:n.2511-12_2511-11insAA
NR_148393.1:n.2596_2597insAA
NR_148394.1:n.2350_2351insAA
NR_148395.1:n.2748_2749insAA
NR_148396.1:n.2382_2383insAA
NR_148397.1:n.2507_2508insAA
NR_148398.1:n.2462_2463insAA
NR_148399.1:n.2824-12_2824-11insAA
NR_148400.1:n.2587_2588insAA
XM_005272162.3:c.229_230insAA	XP_005272219.1:n.229_230insAA
XM_006716932.2:c.229_230insAA	XP_006716995.1:n.229_230insAA
XM_011518140.2:c.229_230insAA	XP_011516442.1:n.229_230insAA
XM_011518141.2:c.229_230insAA	XP_011516443.1:n.229_230insAA
XM_011518142.2:c.229_230insAA	XP_011516444.1:n.229_230insAA
XM_011518143.2:c.229_230insAA	XP_011516445.1:n.229_230insAA
XM_011518145.2:c.229_230insAA	XP_011516447.1:n.229_230insAA
XM_017014205.2:c.229_230insAA	XP_016869694.1:n.229_230insAA
XM_024447380.1:c.229_230insAA	XP_024303148.1:n.229_230insAA
XM_024447381.1:c.229_230insAA	XP_024303149.1:n.229_230insAA
XM_024447382.1:c.229_230insAA	XP_024303150.1:n.229_230insAA
XR_001746160.2:n.2413-12_2413-11insAA
XR_001746162.2:n.2782_2783insAA
XR_001746164.1:n.2499_2500insAA
XR_001746166.2:n.2630-12_2630-11insAA
NM_001077365.2:c.229_230insAA MANE Select	NP_001070833.1:n.229_230insAA
NM_001077366.2:c.229_230insAA	NP_001070834.1:n.229_230insAA
NM_001136113.2:c.229_230insAA	NP_001129585.1:n.229_230insAA
NM_001136114.2:c.229_230insAA	NP_001129586.1:n.229_230insAA
NM_001353193.2:c.229_230insAA	NP_001340122.2:n.229_230insAA
NM_001353194.2:c.229_230insAA	NP_001340123.1:n.229_230insAA
NM_001353195.2:c.229_230insAA	NP_001340124.1:n.229_230insAA
NM_001353196.2:c.229_230insAA	NP_001340125.1:n.229_230insAA
NM_001353197.2:c.229_230insAA	NP_001340126.2:n.229_230insAA
NM_001353198.2:c.229_230insAA	NP_001340127.2:n.229_230insAA
NM_001353199.2:c.229_230insAA	NP_001340128.2:n.229_230insAA
NM_001353200.2:c.229_230insAA	NP_001340129.1:n.229_230insAA
NM_001374689.1:c.229_230insAA	NP_001361618.1:n.229_230insAA
NM_001374690.1:c.229_230insAA	NP_001361619.1:n.229_230insAA
NM_001374691.1:c.229_230insAA	NP_001361620.1:n.229_230insAA
NM_001374692.1:c.229_230insAA	NP_001361621.1:n.229_230insAA
NM_001374693.1:c.229_230insAA	NP_001361622.1:n.229_230insAA
NM_001374695.1:c.229_230insAA	NP_001361624.1:n.229_230insAA
NM_007171.4:c.229_230insAA	NP_009102.4:n.229_230insAA
NR_148391.2:n.2277-12_2277-11insAA
NR_148392.2:n.2495-12_2495-11insAA
NR_148393.2:n.2580_2581insAA
NR_148394.2:n.2334_2335insAA
NR_148395.2:n.2732_2733insAA
NR_148396.2:n.2366_2367insAA
NR_148397.2:n.2491_2492insAA
NR_148398.2:n.2446_2447insAA
NR_148399.2:n.2808-12_2808-11insAA
NR_148400.2:n.2571_2572insAA

Linked Data

Genomic Alleles

Transcript Alleles