Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523451_131523453dup , CM000671.2:g.131523451_131523453dup	GRCh38
NC_000009.11:g.134398838_134398840dup , CM000671.1:g.134398838_134398840dup	GRCh37
NC_000009.10:g.133388659_133388661dup	NCBI36
NG_008896.1:g.25550_25552dup
NG_008896.2:g.25550_25552dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.345_347dup	ENSP00000343034.7:n.345_347dup
ENST00000404875.7:n.3063_3065dup
ENST00000677295.2:c.2867_2869dup	ENSP00000504346.2:n.2867_2869dup
ENST00000678264.2:c.2706_2708dup	ENSP00000503157.2:n.2706_2708dup
ENST00000682070.1:n.2833_2835dup
ENST00000682639.1:c.240-12_240-10dup
ENST00000682813.1:n.2920_2922dup
ENST00000683231.1:c.373_375dup
ENST00000683392.1:n.5115_5117dup
ENST00000683900.1:n.4423_4425dup
ENST00000684062.1:n.3189_3191dup
ENST00000684399.1:c.338_340dup
ENST00000684579.1:n.4369_4371dup
ENST00000341012.12:c.345_347dup	ENSP00000343034.7:n.345_347dup
ENST00000372220.5:c.345_347dup	ENSP00000361294.5:n.345_347dup
ENST00000372228.9:c.345_347dup	ENSP00000361302.3:n.345_347dup
ENST00000402686.8:c.345_347dup MANE Select	ENSP00000385797.4:n.345_347dup
ENST00000676640.1:c.345_347dup	ENSP00000503281.1:n.345_347dup
ENST00000676803.1:c.345_347dup	ENSP00000503093.1:n.345_347dup
ENST00000676835.1:c.1738_1740dup	ENSP00000502911.1:n.1738_1740dup
ENST00000677099.1:c.2233_2235dup	ENSP00000504553.1:n.2233_2235dup
ENST00000677295.1:c.1745_1747dup	ENSP00000504346.1:n.1745_1747dup
ENST00000677444.1:c.2468_2470dup
ENST00000677626.1:c.345_347dup	ENSP00000503552.1:n.345_347dup
ENST00000677853.1:c.1531_1533dup	ENSP00000503488.1:n.1531_1533dup
ENST00000678366.1:c.2772_2774dup	ENSP00000504353.1:n.2772_2774dup
ENST00000678546.1:c.2468_2470dup	ENSP00000503062.1:n.2468_2470dup
ENST00000678548.1:c.2662_2664dup	ENSP00000503934.1:n.2662_2664dup
ENST00000678626.1:n.2359_2361dup
ENST00000678739.1:c.2689_2691dup	ENSP00000503806.1:n.2689_2691dup
ENST00000678833.1:c.2275_2277dup	ENSP00000503893.1:n.2275_2277dup
ENST00000679023.1:c.169_171dup	ENSP00000503718.1:n.169_171dup
ENST00000679076.1:c.2142_2144dup
ENST00000679111.1:c.1279_1281dup	ENSP00000504257.1:n.1279_1281dup
ENST00000341012.11:c.345_347dup	ENSP00000343034.7:n.345_347dup
ENST00000372220.4:c.1386_1388dup	ENSP00000361294.4:n.1386_1388dup
ENST00000372228.7:c.345_347dup	ENSP00000361302.3:n.345_347dup
ENST00000402686.7:c.345_347dup	ENSP00000385797.3:n.345_347dup
ENST00000404875.6:c.345_347dup	ENSP00000384531.2:n.345_347dup
ENST00000423007.5:c.345_347dup	ENSP00000404119.1:n.345_347dup
ENST00000485278.5:n.3073_3075dup
NM_001077365.1:c.345_347dup	NP_001070833.1:n.345_347dup
NM_001077366.1:c.345_347dup	NP_001070834.1:n.345_347dup
NM_001136113.1:c.345_347dup	NP_001129585.1:n.345_347dup
NM_001136114.1:c.345_347dup	NP_001129586.1:n.345_347dup
NM_007171.3:c.345_347dup	NP_009102.3:n.345_347dup
XM_005272156.1:c.345_347dup	XP_005272213.1:n.345_347dup
XM_005272158.1:c.345_347dup	XP_005272215.1:n.345_347dup
XM_005272159.1:c.345_347dup	XP_005272216.1:n.345_347dup
XM_005272162.1:c.345_347dup	XP_005272219.1:n.345_347dup
XM_006716932.1:c.345_347dup	XP_006716995.1:n.345_347dup
XM_011518140.1:c.345_347dup	XP_011516442.1:n.345_347dup
XM_011518141.1:c.345_347dup	XP_011516443.1:n.345_347dup
XM_011518142.1:c.345_347dup	XP_011516444.1:n.345_347dup
XM_011518143.1:c.345_347dup	XP_011516445.1:n.345_347dup
XM_011518145.1:c.345_347dup	XP_011516447.1:n.345_347dup
XM_011518147.1:c.345_347dup	XP_011516449.1:n.345_347dup
XR_929703.1:n.2589_2591dup
NM_001353193.1:c.345_347dup	NP_001340122.1:n.345_347dup
NM_001353194.1:c.345_347dup	NP_001340123.1:n.345_347dup
NM_001353195.1:c.345_347dup	NP_001340124.1:n.345_347dup
NM_001353196.1:c.345_347dup	NP_001340125.1:n.345_347dup
NM_001353197.1:c.345_347dup	NP_001340126.1:n.345_347dup
NM_001353198.1:c.345_347dup	NP_001340127.1:n.345_347dup
NM_001353199.1:c.345_347dup	NP_001340128.1:n.345_347dup
NM_001353200.1:c.345_347dup	NP_001340129.1:n.345_347dup
NR_148391.1:n.2397_2399dup
NR_148392.1:n.2615_2617dup
NR_148393.1:n.2712_2714dup
NR_148394.1:n.2466_2468dup
NR_148395.1:n.2864_2866dup
NR_148396.1:n.2498_2500dup
NR_148397.1:n.2623_2625dup
NR_148398.1:n.2578_2580dup
NR_148399.1:n.2928_2930dup
NR_148400.1:n.2703_2705dup
XM_005272162.3:c.345_347dup	XP_005272219.1:n.345_347dup
XM_006716932.2:c.345_347dup	XP_006716995.1:n.345_347dup
XM_011518140.2:c.345_347dup	XP_011516442.1:n.345_347dup
XM_011518141.2:c.345_347dup	XP_011516443.1:n.345_347dup
XM_011518142.2:c.345_347dup	XP_011516444.1:n.345_347dup
XM_011518143.2:c.345_347dup	XP_011516445.1:n.345_347dup
XM_011518145.2:c.345_347dup	XP_011516447.1:n.345_347dup
XM_017014205.2:c.345_347dup	XP_016869694.1:n.345_347dup
XM_024447380.1:c.345_347dup	XP_024303148.1:n.345_347dup
XM_024447381.1:c.345_347dup	XP_024303149.1:n.345_347dup
XM_024447382.1:c.345_347dup	XP_024303150.1:n.345_347dup
XR_001746160.2:n.2517_2519dup
XR_001746162.2:n.2898_2900dup
XR_001746164.1:n.2615_2617dup
XR_001746166.2:n.2734_2736dup
NM_001077365.2:c.345_347dup MANE Select	NP_001070833.1:n.345_347dup
NM_001077366.2:c.345_347dup	NP_001070834.1:n.345_347dup
NM_001136113.2:c.345_347dup	NP_001129585.1:n.345_347dup
NM_001136114.2:c.345_347dup	NP_001129586.1:n.345_347dup
NM_001353193.2:c.345_347dup	NP_001340122.2:n.345_347dup
NM_001353194.2:c.345_347dup	NP_001340123.1:n.345_347dup
NM_001353195.2:c.345_347dup	NP_001340124.1:n.345_347dup
NM_001353196.2:c.345_347dup	NP_001340125.1:n.345_347dup
NM_001353197.2:c.345_347dup	NP_001340126.2:n.345_347dup
NM_001353198.2:c.345_347dup	NP_001340127.2:n.345_347dup
NM_001353199.2:c.345_347dup	NP_001340128.2:n.345_347dup
NM_001353200.2:c.345_347dup	NP_001340129.1:n.345_347dup
NM_001374689.1:c.345_347dup	NP_001361618.1:n.345_347dup
NM_001374690.1:c.345_347dup	NP_001361619.1:n.345_347dup
NM_001374691.1:c.345_347dup	NP_001361620.1:n.345_347dup
NM_001374692.1:c.345_347dup	NP_001361621.1:n.345_347dup
NM_001374693.1:c.345_347dup	NP_001361622.1:n.345_347dup
NM_001374695.1:c.345_347dup	NP_001361624.1:n.345_347dup
NM_007171.4:c.345_347dup	NP_009102.4:n.345_347dup
NR_148391.2:n.2381_2383dup
NR_148392.2:n.2599_2601dup
NR_148393.2:n.2696_2698dup
NR_148394.2:n.2450_2452dup
NR_148395.2:n.2848_2850dup
NR_148396.2:n.2482_2484dup
NR_148397.2:n.2607_2609dup
NR_148398.2:n.2562_2564dup
NR_148399.2:n.2912_2914dup
NR_148400.2:n.2687_2689dup

HGVS	Amino-acid Change
ENST00000341012.13:c.345_347dup	ENSP00000343034.7:n.345_347dup
ENST00000404875.7:n.3063_3065dup
ENST00000677295.2:c.2867_2869dup	ENSP00000504346.2:n.2867_2869dup
ENST00000678264.2:c.2706_2708dup	ENSP00000503157.2:n.2706_2708dup
ENST00000682070.1:n.2833_2835dup
ENST00000682639.1:c.240-12_240-10dup
ENST00000682813.1:n.2920_2922dup
ENST00000683231.1:c.373_375dup
ENST00000683392.1:n.5115_5117dup
ENST00000683900.1:n.4423_4425dup
ENST00000684062.1:n.3189_3191dup
ENST00000684399.1:c.338_340dup
ENST00000684579.1:n.4369_4371dup
ENST00000341012.12:c.345_347dup	ENSP00000343034.7:n.345_347dup
ENST00000372220.5:c.345_347dup	ENSP00000361294.5:n.345_347dup
ENST00000372228.9:c.345_347dup	ENSP00000361302.3:n.345_347dup
ENST00000402686.8:c.345_347dup MANE Select	ENSP00000385797.4:n.345_347dup
ENST00000676640.1:c.345_347dup	ENSP00000503281.1:n.345_347dup
ENST00000676803.1:c.345_347dup	ENSP00000503093.1:n.345_347dup
ENST00000676835.1:c.1738_1740dup	ENSP00000502911.1:n.1738_1740dup
ENST00000677099.1:c.2233_2235dup	ENSP00000504553.1:n.2233_2235dup
ENST00000677295.1:c.1745_1747dup	ENSP00000504346.1:n.1745_1747dup
ENST00000677444.1:c.2468_2470dup
ENST00000677626.1:c.345_347dup	ENSP00000503552.1:n.345_347dup
ENST00000677853.1:c.1531_1533dup	ENSP00000503488.1:n.1531_1533dup
ENST00000678366.1:c.2772_2774dup	ENSP00000504353.1:n.2772_2774dup
ENST00000678546.1:c.2468_2470dup	ENSP00000503062.1:n.2468_2470dup
ENST00000678548.1:c.2662_2664dup	ENSP00000503934.1:n.2662_2664dup
ENST00000678626.1:n.2359_2361dup
ENST00000678739.1:c.2689_2691dup	ENSP00000503806.1:n.2689_2691dup
ENST00000678833.1:c.2275_2277dup	ENSP00000503893.1:n.2275_2277dup
ENST00000679023.1:c.169_171dup	ENSP00000503718.1:n.169_171dup
ENST00000679076.1:c.2142_2144dup
ENST00000679111.1:c.1279_1281dup	ENSP00000504257.1:n.1279_1281dup
ENST00000341012.11:c.345_347dup	ENSP00000343034.7:n.345_347dup
ENST00000372220.4:c.1386_1388dup	ENSP00000361294.4:n.1386_1388dup
ENST00000372228.7:c.345_347dup	ENSP00000361302.3:n.345_347dup
ENST00000402686.7:c.345_347dup	ENSP00000385797.3:n.345_347dup
ENST00000404875.6:c.345_347dup	ENSP00000384531.2:n.345_347dup
ENST00000423007.5:c.345_347dup	ENSP00000404119.1:n.345_347dup
ENST00000485278.5:n.3073_3075dup
NM_001077365.1:c.345_347dup	NP_001070833.1:n.345_347dup
NM_001077366.1:c.345_347dup	NP_001070834.1:n.345_347dup
NM_001136113.1:c.345_347dup	NP_001129585.1:n.345_347dup
NM_001136114.1:c.345_347dup	NP_001129586.1:n.345_347dup
NM_007171.3:c.345_347dup	NP_009102.3:n.345_347dup
XM_005272156.1:c.345_347dup	XP_005272213.1:n.345_347dup
XM_005272158.1:c.345_347dup	XP_005272215.1:n.345_347dup
XM_005272159.1:c.345_347dup	XP_005272216.1:n.345_347dup
XM_005272162.1:c.345_347dup	XP_005272219.1:n.345_347dup
XM_006716932.1:c.345_347dup	XP_006716995.1:n.345_347dup
XM_011518140.1:c.345_347dup	XP_011516442.1:n.345_347dup
XM_011518141.1:c.345_347dup	XP_011516443.1:n.345_347dup
XM_011518142.1:c.345_347dup	XP_011516444.1:n.345_347dup
XM_011518143.1:c.345_347dup	XP_011516445.1:n.345_347dup
XM_011518145.1:c.345_347dup	XP_011516447.1:n.345_347dup
XM_011518147.1:c.345_347dup	XP_011516449.1:n.345_347dup
XR_929703.1:n.2589_2591dup
NM_001353193.1:c.345_347dup	NP_001340122.1:n.345_347dup
NM_001353194.1:c.345_347dup	NP_001340123.1:n.345_347dup
NM_001353195.1:c.345_347dup	NP_001340124.1:n.345_347dup
NM_001353196.1:c.345_347dup	NP_001340125.1:n.345_347dup
NM_001353197.1:c.345_347dup	NP_001340126.1:n.345_347dup
NM_001353198.1:c.345_347dup	NP_001340127.1:n.345_347dup
NM_001353199.1:c.345_347dup	NP_001340128.1:n.345_347dup
NM_001353200.1:c.345_347dup	NP_001340129.1:n.345_347dup
NR_148391.1:n.2397_2399dup
NR_148392.1:n.2615_2617dup
NR_148393.1:n.2712_2714dup
NR_148394.1:n.2466_2468dup
NR_148395.1:n.2864_2866dup
NR_148396.1:n.2498_2500dup
NR_148397.1:n.2623_2625dup
NR_148398.1:n.2578_2580dup
NR_148399.1:n.2928_2930dup
NR_148400.1:n.2703_2705dup
XM_005272162.3:c.345_347dup	XP_005272219.1:n.345_347dup
XM_006716932.2:c.345_347dup	XP_006716995.1:n.345_347dup
XM_011518140.2:c.345_347dup	XP_011516442.1:n.345_347dup
XM_011518141.2:c.345_347dup	XP_011516443.1:n.345_347dup
XM_011518142.2:c.345_347dup	XP_011516444.1:n.345_347dup
XM_011518143.2:c.345_347dup	XP_011516445.1:n.345_347dup
XM_011518145.2:c.345_347dup	XP_011516447.1:n.345_347dup
XM_017014205.2:c.345_347dup	XP_016869694.1:n.345_347dup
XM_024447380.1:c.345_347dup	XP_024303148.1:n.345_347dup
XM_024447381.1:c.345_347dup	XP_024303149.1:n.345_347dup
XM_024447382.1:c.345_347dup	XP_024303150.1:n.345_347dup
XR_001746160.2:n.2517_2519dup
XR_001746162.2:n.2898_2900dup
XR_001746164.1:n.2615_2617dup
XR_001746166.2:n.2734_2736dup
NM_001077365.2:c.345_347dup MANE Select	NP_001070833.1:n.345_347dup
NM_001077366.2:c.345_347dup	NP_001070834.1:n.345_347dup
NM_001136113.2:c.345_347dup	NP_001129585.1:n.345_347dup
NM_001136114.2:c.345_347dup	NP_001129586.1:n.345_347dup
NM_001353193.2:c.345_347dup	NP_001340122.2:n.345_347dup
NM_001353194.2:c.345_347dup	NP_001340123.1:n.345_347dup
NM_001353195.2:c.345_347dup	NP_001340124.1:n.345_347dup
NM_001353196.2:c.345_347dup	NP_001340125.1:n.345_347dup
NM_001353197.2:c.345_347dup	NP_001340126.2:n.345_347dup
NM_001353198.2:c.345_347dup	NP_001340127.2:n.345_347dup
NM_001353199.2:c.345_347dup	NP_001340128.2:n.345_347dup
NM_001353200.2:c.345_347dup	NP_001340129.1:n.345_347dup
NM_001374689.1:c.345_347dup	NP_001361618.1:n.345_347dup
NM_001374690.1:c.345_347dup	NP_001361619.1:n.345_347dup
NM_001374691.1:c.345_347dup	NP_001361620.1:n.345_347dup
NM_001374692.1:c.345_347dup	NP_001361621.1:n.345_347dup
NM_001374693.1:c.345_347dup	NP_001361622.1:n.345_347dup
NM_001374695.1:c.345_347dup	NP_001361624.1:n.345_347dup
NM_007171.4:c.345_347dup	NP_009102.4:n.345_347dup
NR_148391.2:n.2381_2383dup
NR_148392.2:n.2599_2601dup
NR_148393.2:n.2696_2698dup
NR_148394.2:n.2450_2452dup
NR_148395.2:n.2848_2850dup
NR_148396.2:n.2482_2484dup
NR_148397.2:n.2607_2609dup
NR_148398.2:n.2562_2564dup
NR_148399.2:n.2912_2914dup
NR_148400.2:n.2687_2689dup

Linked Data

Genomic Alleles

Transcript Alleles