Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523209_131523210dup , CM000671.2:g.131523209_131523210dup	GRCh38
NC_000009.11:g.134398596_134398597dup , CM000671.1:g.134398596_134398597dup	GRCh37
NC_000009.10:g.133388417_133388418dup	NCBI36
NG_008896.1:g.25308_25309dup
NG_008896.2:g.25308_25309dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.103_104dup	ENSP00000343034.7:n.103_104dup
ENST00000404875.7:n.2821_2822dup
ENST00000677295.2:c.2625_2626dup	ENSP00000504346.2:n.2625_2626dup
ENST00000678264.2:c.2464_2465dup	ENSP00000503157.2:n.2464_2465dup
ENST00000682070.1:n.2591_2592dup
ENST00000682639.1:c.239+39_239+40dup
ENST00000682813.1:n.2678_2679dup
ENST00000683231.1:c.239+39_239+40dup
ENST00000683392.1:n.4873_4874dup
ENST00000683900.1:n.4181_4182dup
ENST00000684062.1:n.2947_2948dup
ENST00000684399.1:c.239+39_239+40dup
ENST00000684579.1:n.4127_4128dup
ENST00000341012.12:c.103_104dup	ENSP00000343034.7:n.103_104dup
ENST00000372220.5:c.103_104dup	ENSP00000361294.5:n.103_104dup
ENST00000372228.9:c.103_104dup	ENSP00000361302.3:n.103_104dup
ENST00000402686.8:c.103_104dup MANE Select	ENSP00000385797.4:n.103_104dup
ENST00000676640.1:c.103_104dup	ENSP00000503281.1:n.103_104dup
ENST00000676803.1:c.103_104dup	ENSP00000503093.1:n.103_104dup
ENST00000676835.1:c.1496_1497dup	ENSP00000502911.1:n.1496_1497dup
ENST00000677029.1:c.103_104dup	ENSP00000502936.1:n.103_104dup
ENST00000677099.1:c.1991_1992dup	ENSP00000504553.1:n.1991_1992dup
ENST00000677216.1:c.103_104dup	ENSP00000503772.1:n.103_104dup
ENST00000677295.1:c.1503_1504dup	ENSP00000504346.1:n.1503_1504dup
ENST00000677444.1:c.2226_2227dup
ENST00000677626.1:c.103_104dup	ENSP00000503552.1:n.103_104dup
ENST00000677853.1:c.1289_1290dup	ENSP00000503488.1:n.1289_1290dup
ENST00000678303.1:c.103_104dup	ENSP00000503696.1:n.103_104dup
ENST00000678366.1:c.2530_2531dup	ENSP00000504353.1:n.2530_2531dup
ENST00000678546.1:c.2226_2227dup	ENSP00000503062.1:n.2226_2227dup
ENST00000678548.1:c.2420_2421dup	ENSP00000503934.1:n.2420_2421dup
ENST00000678626.1:n.2117_2118dup
ENST00000678739.1:c.2447_2448dup	ENSP00000503806.1:n.2447_2448dup
ENST00000678833.1:c.2033_2034dup	ENSP00000503893.1:n.2033_2034dup
ENST00000679023.1:c.64+39_64+40dup	ENSP00000503718.1:n.64+39_64+40dup
ENST00000679076.1:c.1900_1901dup
ENST00000679111.1:c.1037_1038dup	ENSP00000504257.1:n.1037_1038dup
ENST00000679189.1:c.103_104dup	ENSP00000503356.1:n.103_104dup
ENST00000341012.11:c.103_104dup	ENSP00000343034.7:n.103_104dup
ENST00000372220.4:c.1144_1145dup	ENSP00000361294.4:n.1144_1145dup
ENST00000372228.7:c.103_104dup	ENSP00000361302.3:n.103_104dup
ENST00000402686.7:c.103_104dup	ENSP00000385797.3:n.103_104dup
ENST00000404875.6:c.103_104dup	ENSP00000384531.2:n.103_104dup
ENST00000423007.5:c.103_104dup	ENSP00000404119.1:n.103_104dup
ENST00000485278.5:n.2831_2832dup
NM_001077365.1:c.103_104dup	NP_001070833.1:n.103_104dup
NM_001077366.1:c.103_104dup	NP_001070834.1:n.103_104dup
NM_001136113.1:c.103_104dup	NP_001129585.1:n.103_104dup
NM_001136114.1:c.103_104dup	NP_001129586.1:n.103_104dup
NM_007171.3:c.103_104dup	NP_009102.3:n.103_104dup
XM_005272156.1:c.103_104dup	XP_005272213.1:n.103_104dup
XM_005272158.1:c.103_104dup	XP_005272215.1:n.103_104dup
XM_005272159.1:c.103_104dup	XP_005272216.1:n.103_104dup
XM_005272162.1:c.103_104dup	XP_005272219.1:n.103_104dup
XM_006716932.1:c.103_104dup	XP_006716995.1:n.103_104dup
XM_011518140.1:c.103_104dup	XP_011516442.1:n.103_104dup
XM_011518141.1:c.103_104dup	XP_011516443.1:n.103_104dup
XM_011518142.1:c.103_104dup	XP_011516444.1:n.103_104dup
XM_011518143.1:c.103_104dup	XP_011516445.1:n.103_104dup
XM_011518145.1:c.103_104dup	XP_011516447.1:n.103_104dup
XM_011518147.1:c.103_104dup	XP_011516449.1:n.103_104dup
XR_929703.1:n.2484+39_2484+40dup
NM_001353193.1:c.103_104dup	NP_001340122.1:n.103_104dup
NM_001353194.1:c.103_104dup	NP_001340123.1:n.103_104dup
NM_001353195.1:c.103_104dup	NP_001340124.1:n.103_104dup
NM_001353196.1:c.103_104dup	NP_001340125.1:n.103_104dup
NM_001353197.1:c.103_104dup	NP_001340126.1:n.103_104dup
NM_001353198.1:c.103_104dup	NP_001340127.1:n.103_104dup
NM_001353199.1:c.103_104dup	NP_001340128.1:n.103_104dup
NM_001353200.1:c.103_104dup	NP_001340129.1:n.103_104dup
NR_148391.1:n.2292+39_2292+40dup
NR_148392.1:n.2510+39_2510+40dup
NR_148393.1:n.2470_2471dup
NR_148394.1:n.2224_2225dup
NR_148395.1:n.2622_2623dup
NR_148396.1:n.2256_2257dup
NR_148397.1:n.2381_2382dup
NR_148398.1:n.2336_2337dup
NR_148399.1:n.2823+39_2823+40dup
NR_148400.1:n.2461_2462dup
XM_005272162.3:c.103_104dup	XP_005272219.1:n.103_104dup
XM_006716932.2:c.103_104dup	XP_006716995.1:n.103_104dup
XM_011518140.2:c.103_104dup	XP_011516442.1:n.103_104dup
XM_011518141.2:c.103_104dup	XP_011516443.1:n.103_104dup
XM_011518142.2:c.103_104dup	XP_011516444.1:n.103_104dup
XM_011518143.2:c.103_104dup	XP_011516445.1:n.103_104dup
XM_011518145.2:c.103_104dup	XP_011516447.1:n.103_104dup
XM_017014205.2:c.103_104dup	XP_016869694.1:n.103_104dup
XM_024447380.1:c.103_104dup	XP_024303148.1:n.103_104dup
XM_024447381.1:c.103_104dup	XP_024303149.1:n.103_104dup
XM_024447382.1:c.103_104dup	XP_024303150.1:n.103_104dup
XR_001746160.2:n.2412+39_2412+40dup
XR_001746162.2:n.2656_2657dup
XR_001746164.1:n.2373_2374dup
XR_001746166.2:n.2629+39_2629+40dup
NM_001077365.2:c.103_104dup MANE Select	NP_001070833.1:n.103_104dup
NM_001077366.2:c.103_104dup	NP_001070834.1:n.103_104dup
NM_001136113.2:c.103_104dup	NP_001129585.1:n.103_104dup
NM_001136114.2:c.103_104dup	NP_001129586.1:n.103_104dup
NM_001353193.2:c.103_104dup	NP_001340122.2:n.103_104dup
NM_001353194.2:c.103_104dup	NP_001340123.1:n.103_104dup
NM_001353195.2:c.103_104dup	NP_001340124.1:n.103_104dup
NM_001353196.2:c.103_104dup	NP_001340125.1:n.103_104dup
NM_001353197.2:c.103_104dup	NP_001340126.2:n.103_104dup
NM_001353198.2:c.103_104dup	NP_001340127.2:n.103_104dup
NM_001353199.2:c.103_104dup	NP_001340128.2:n.103_104dup
NM_001353200.2:c.103_104dup	NP_001340129.1:n.103_104dup
NM_001374689.1:c.103_104dup	NP_001361618.1:n.103_104dup
NM_001374690.1:c.103_104dup	NP_001361619.1:n.103_104dup
NM_001374691.1:c.103_104dup	NP_001361620.1:n.103_104dup
NM_001374692.1:c.103_104dup	NP_001361621.1:n.103_104dup
NM_001374693.1:c.103_104dup	NP_001361622.1:n.103_104dup
NM_001374695.1:c.103_104dup	NP_001361624.1:n.103_104dup
NM_007171.4:c.103_104dup	NP_009102.4:n.103_104dup
NR_148391.2:n.2276+39_2276+40dup
NR_148392.2:n.2494+39_2494+40dup
NR_148393.2:n.2454_2455dup
NR_148394.2:n.2208_2209dup
NR_148395.2:n.2606_2607dup
NR_148396.2:n.2240_2241dup
NR_148397.2:n.2365_2366dup
NR_148398.2:n.2320_2321dup
NR_148399.2:n.2807+39_2807+40dup
NR_148400.2:n.2445_2446dup

HGVS	Amino-acid Change
ENST00000341012.13:c.103_104dup	ENSP00000343034.7:n.103_104dup
ENST00000404875.7:n.2821_2822dup
ENST00000677295.2:c.2625_2626dup	ENSP00000504346.2:n.2625_2626dup
ENST00000678264.2:c.2464_2465dup	ENSP00000503157.2:n.2464_2465dup
ENST00000682070.1:n.2591_2592dup
ENST00000682639.1:c.239+39_239+40dup
ENST00000682813.1:n.2678_2679dup
ENST00000683231.1:c.239+39_239+40dup
ENST00000683392.1:n.4873_4874dup
ENST00000683900.1:n.4181_4182dup
ENST00000684062.1:n.2947_2948dup
ENST00000684399.1:c.239+39_239+40dup
ENST00000684579.1:n.4127_4128dup
ENST00000341012.12:c.103_104dup	ENSP00000343034.7:n.103_104dup
ENST00000372220.5:c.103_104dup	ENSP00000361294.5:n.103_104dup
ENST00000372228.9:c.103_104dup	ENSP00000361302.3:n.103_104dup
ENST00000402686.8:c.103_104dup MANE Select	ENSP00000385797.4:n.103_104dup
ENST00000676640.1:c.103_104dup	ENSP00000503281.1:n.103_104dup
ENST00000676803.1:c.103_104dup	ENSP00000503093.1:n.103_104dup
ENST00000676835.1:c.1496_1497dup	ENSP00000502911.1:n.1496_1497dup
ENST00000677029.1:c.103_104dup	ENSP00000502936.1:n.103_104dup
ENST00000677099.1:c.1991_1992dup	ENSP00000504553.1:n.1991_1992dup
ENST00000677216.1:c.103_104dup	ENSP00000503772.1:n.103_104dup
ENST00000677295.1:c.1503_1504dup	ENSP00000504346.1:n.1503_1504dup
ENST00000677444.1:c.2226_2227dup
ENST00000677626.1:c.103_104dup	ENSP00000503552.1:n.103_104dup
ENST00000677853.1:c.1289_1290dup	ENSP00000503488.1:n.1289_1290dup
ENST00000678303.1:c.103_104dup	ENSP00000503696.1:n.103_104dup
ENST00000678366.1:c.2530_2531dup	ENSP00000504353.1:n.2530_2531dup
ENST00000678546.1:c.2226_2227dup	ENSP00000503062.1:n.2226_2227dup
ENST00000678548.1:c.2420_2421dup	ENSP00000503934.1:n.2420_2421dup
ENST00000678626.1:n.2117_2118dup
ENST00000678739.1:c.2447_2448dup	ENSP00000503806.1:n.2447_2448dup
ENST00000678833.1:c.2033_2034dup	ENSP00000503893.1:n.2033_2034dup
ENST00000679023.1:c.64+39_64+40dup	ENSP00000503718.1:n.64+39_64+40dup
ENST00000679076.1:c.1900_1901dup
ENST00000679111.1:c.1037_1038dup	ENSP00000504257.1:n.1037_1038dup
ENST00000679189.1:c.103_104dup	ENSP00000503356.1:n.103_104dup
ENST00000341012.11:c.103_104dup	ENSP00000343034.7:n.103_104dup
ENST00000372220.4:c.1144_1145dup	ENSP00000361294.4:n.1144_1145dup
ENST00000372228.7:c.103_104dup	ENSP00000361302.3:n.103_104dup
ENST00000402686.7:c.103_104dup	ENSP00000385797.3:n.103_104dup
ENST00000404875.6:c.103_104dup	ENSP00000384531.2:n.103_104dup
ENST00000423007.5:c.103_104dup	ENSP00000404119.1:n.103_104dup
ENST00000485278.5:n.2831_2832dup
NM_001077365.1:c.103_104dup	NP_001070833.1:n.103_104dup
NM_001077366.1:c.103_104dup	NP_001070834.1:n.103_104dup
NM_001136113.1:c.103_104dup	NP_001129585.1:n.103_104dup
NM_001136114.1:c.103_104dup	NP_001129586.1:n.103_104dup
NM_007171.3:c.103_104dup	NP_009102.3:n.103_104dup
XM_005272156.1:c.103_104dup	XP_005272213.1:n.103_104dup
XM_005272158.1:c.103_104dup	XP_005272215.1:n.103_104dup
XM_005272159.1:c.103_104dup	XP_005272216.1:n.103_104dup
XM_005272162.1:c.103_104dup	XP_005272219.1:n.103_104dup
XM_006716932.1:c.103_104dup	XP_006716995.1:n.103_104dup
XM_011518140.1:c.103_104dup	XP_011516442.1:n.103_104dup
XM_011518141.1:c.103_104dup	XP_011516443.1:n.103_104dup
XM_011518142.1:c.103_104dup	XP_011516444.1:n.103_104dup
XM_011518143.1:c.103_104dup	XP_011516445.1:n.103_104dup
XM_011518145.1:c.103_104dup	XP_011516447.1:n.103_104dup
XM_011518147.1:c.103_104dup	XP_011516449.1:n.103_104dup
XR_929703.1:n.2484+39_2484+40dup
NM_001353193.1:c.103_104dup	NP_001340122.1:n.103_104dup
NM_001353194.1:c.103_104dup	NP_001340123.1:n.103_104dup
NM_001353195.1:c.103_104dup	NP_001340124.1:n.103_104dup
NM_001353196.1:c.103_104dup	NP_001340125.1:n.103_104dup
NM_001353197.1:c.103_104dup	NP_001340126.1:n.103_104dup
NM_001353198.1:c.103_104dup	NP_001340127.1:n.103_104dup
NM_001353199.1:c.103_104dup	NP_001340128.1:n.103_104dup
NM_001353200.1:c.103_104dup	NP_001340129.1:n.103_104dup
NR_148391.1:n.2292+39_2292+40dup
NR_148392.1:n.2510+39_2510+40dup
NR_148393.1:n.2470_2471dup
NR_148394.1:n.2224_2225dup
NR_148395.1:n.2622_2623dup
NR_148396.1:n.2256_2257dup
NR_148397.1:n.2381_2382dup
NR_148398.1:n.2336_2337dup
NR_148399.1:n.2823+39_2823+40dup
NR_148400.1:n.2461_2462dup
XM_005272162.3:c.103_104dup	XP_005272219.1:n.103_104dup
XM_006716932.2:c.103_104dup	XP_006716995.1:n.103_104dup
XM_011518140.2:c.103_104dup	XP_011516442.1:n.103_104dup
XM_011518141.2:c.103_104dup	XP_011516443.1:n.103_104dup
XM_011518142.2:c.103_104dup	XP_011516444.1:n.103_104dup
XM_011518143.2:c.103_104dup	XP_011516445.1:n.103_104dup
XM_011518145.2:c.103_104dup	XP_011516447.1:n.103_104dup
XM_017014205.2:c.103_104dup	XP_016869694.1:n.103_104dup
XM_024447380.1:c.103_104dup	XP_024303148.1:n.103_104dup
XM_024447381.1:c.103_104dup	XP_024303149.1:n.103_104dup
XM_024447382.1:c.103_104dup	XP_024303150.1:n.103_104dup
XR_001746160.2:n.2412+39_2412+40dup
XR_001746162.2:n.2656_2657dup
XR_001746164.1:n.2373_2374dup
XR_001746166.2:n.2629+39_2629+40dup
NM_001077365.2:c.103_104dup MANE Select	NP_001070833.1:n.103_104dup
NM_001077366.2:c.103_104dup	NP_001070834.1:n.103_104dup
NM_001136113.2:c.103_104dup	NP_001129585.1:n.103_104dup
NM_001136114.2:c.103_104dup	NP_001129586.1:n.103_104dup
NM_001353193.2:c.103_104dup	NP_001340122.2:n.103_104dup
NM_001353194.2:c.103_104dup	NP_001340123.1:n.103_104dup
NM_001353195.2:c.103_104dup	NP_001340124.1:n.103_104dup
NM_001353196.2:c.103_104dup	NP_001340125.1:n.103_104dup
NM_001353197.2:c.103_104dup	NP_001340126.2:n.103_104dup
NM_001353198.2:c.103_104dup	NP_001340127.2:n.103_104dup
NM_001353199.2:c.103_104dup	NP_001340128.2:n.103_104dup
NM_001353200.2:c.103_104dup	NP_001340129.1:n.103_104dup
NM_001374689.1:c.103_104dup	NP_001361618.1:n.103_104dup
NM_001374690.1:c.103_104dup	NP_001361619.1:n.103_104dup
NM_001374691.1:c.103_104dup	NP_001361620.1:n.103_104dup
NM_001374692.1:c.103_104dup	NP_001361621.1:n.103_104dup
NM_001374693.1:c.103_104dup	NP_001361622.1:n.103_104dup
NM_001374695.1:c.103_104dup	NP_001361624.1:n.103_104dup
NM_007171.4:c.103_104dup	NP_009102.4:n.103_104dup
NR_148391.2:n.2276+39_2276+40dup
NR_148392.2:n.2494+39_2494+40dup
NR_148393.2:n.2454_2455dup
NR_148394.2:n.2208_2209dup
NR_148395.2:n.2606_2607dup
NR_148396.2:n.2240_2241dup
NR_148397.2:n.2365_2366dup
NR_148398.2:n.2320_2321dup
NR_148399.2:n.2807+39_2807+40dup
NR_148400.2:n.2445_2446dup