Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523225_131523226insCAT , CM000671.2:g.131523225_131523226insCAT	GRCh38
NC_000009.11:g.134398612_134398613insCAT , CM000671.1:g.134398612_134398613insCAT	GRCh37
NC_000009.10:g.133388433_133388434insCAT	NCBI36
NG_008896.1:g.25324_25325insCAT
NG_008896.2:g.25324_25325insCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.119_120insCAT	ENSP00000343034.7:n.119_120insCAT
ENST00000404875.7:n.2837_2838insCAT
ENST00000677295.2:c.2641_2642insCAT	ENSP00000504346.2:n.2641_2642insCAT
ENST00000678264.2:c.2480_2481insCAT	ENSP00000503157.2:n.2480_2481insCAT
ENST00000682070.1:n.2607_2608insCAT
ENST00000682639.1:c.239+55_239+56insCAT
ENST00000682813.1:n.2694_2695insCAT
ENST00000683231.1:c.239+55_239+56insCAT
ENST00000683392.1:n.4889_4890insCAT
ENST00000683900.1:n.4197_4198insCAT
ENST00000684062.1:n.2963_2964insCAT
ENST00000684399.1:c.239+55_239+56insCAT
ENST00000684579.1:n.4143_4144insCAT
ENST00000341012.12:c.119_120insCAT	ENSP00000343034.7:n.119_120insCAT
ENST00000372220.5:c.119_120insCAT	ENSP00000361294.5:n.119_120insCAT
ENST00000372228.9:c.119_120insCAT	ENSP00000361302.3:n.119_120insCAT
ENST00000402686.8:c.119_120insCAT MANE Select	ENSP00000385797.4:n.119_120insCAT
ENST00000676640.1:c.119_120insCAT	ENSP00000503281.1:n.119_120insCAT
ENST00000676803.1:c.119_120insCAT	ENSP00000503093.1:n.119_120insCAT
ENST00000676835.1:c.1512_1513insCAT	ENSP00000502911.1:n.1512_1513insCAT
ENST00000677029.1:c.119_120insCAT	ENSP00000502936.1:n.119_120insCAT
ENST00000677099.1:c.2007_2008insCAT	ENSP00000504553.1:n.2007_2008insCAT
ENST00000677216.1:c.119_120insCAT	ENSP00000503772.1:n.119_120insCAT
ENST00000677295.1:c.1519_1520insCAT	ENSP00000504346.1:n.1519_1520insCAT
ENST00000677444.1:c.2242_2243insCAT
ENST00000677626.1:c.119_120insCAT	ENSP00000503552.1:n.119_120insCAT
ENST00000677853.1:c.1305_1306insCAT	ENSP00000503488.1:n.1305_1306insCAT
ENST00000678303.1:c.119_120insCAT	ENSP00000503696.1:n.119_120insCAT
ENST00000678366.1:c.2546_2547insCAT	ENSP00000504353.1:n.2546_2547insCAT
ENST00000678546.1:c.2242_2243insCAT	ENSP00000503062.1:n.2242_2243insCAT
ENST00000678548.1:c.2436_2437insCAT	ENSP00000503934.1:n.2436_2437insCAT
ENST00000678626.1:n.2133_2134insCAT
ENST00000678739.1:c.2463_2464insCAT	ENSP00000503806.1:n.2463_2464insCAT
ENST00000678833.1:c.2049_2050insCAT	ENSP00000503893.1:n.2049_2050insCAT
ENST00000679023.1:c.64+55_64+56insCAT	ENSP00000503718.1:n.64+55_64+56insCAT
ENST00000679076.1:c.1916_1917insCAT
ENST00000679111.1:c.1053_1054insCAT	ENSP00000504257.1:n.1053_1054insCAT
ENST00000679189.1:c.119_120insCAT	ENSP00000503356.1:n.119_120insCAT
ENST00000341012.11:c.119_120insCAT	ENSP00000343034.7:n.119_120insCAT
ENST00000372220.4:c.1160_1161insCAT	ENSP00000361294.4:n.1160_1161insCAT
ENST00000372228.7:c.119_120insCAT	ENSP00000361302.3:n.119_120insCAT
ENST00000402686.7:c.119_120insCAT	ENSP00000385797.3:n.119_120insCAT
ENST00000404875.6:c.119_120insCAT	ENSP00000384531.2:n.119_120insCAT
ENST00000423007.5:c.119_120insCAT	ENSP00000404119.1:n.119_120insCAT
ENST00000485278.5:n.2847_2848insCAT
NM_001077365.1:c.119_120insCAT	NP_001070833.1:n.119_120insCAT
NM_001077366.1:c.119_120insCAT	NP_001070834.1:n.119_120insCAT
NM_001136113.1:c.119_120insCAT	NP_001129585.1:n.119_120insCAT
NM_001136114.1:c.119_120insCAT	NP_001129586.1:n.119_120insCAT
NM_007171.3:c.119_120insCAT	NP_009102.3:n.119_120insCAT
XM_005272156.1:c.119_120insCAT	XP_005272213.1:n.119_120insCAT
XM_005272158.1:c.119_120insCAT	XP_005272215.1:n.119_120insCAT
XM_005272159.1:c.119_120insCAT	XP_005272216.1:n.119_120insCAT
XM_005272162.1:c.119_120insCAT	XP_005272219.1:n.119_120insCAT
XM_006716932.1:c.119_120insCAT	XP_006716995.1:n.119_120insCAT
XM_011518140.1:c.119_120insCAT	XP_011516442.1:n.119_120insCAT
XM_011518141.1:c.119_120insCAT	XP_011516443.1:n.119_120insCAT
XM_011518142.1:c.119_120insCAT	XP_011516444.1:n.119_120insCAT
XM_011518143.1:c.119_120insCAT	XP_011516445.1:n.119_120insCAT
XM_011518145.1:c.119_120insCAT	XP_011516447.1:n.119_120insCAT
XM_011518147.1:c.119_120insCAT	XP_011516449.1:n.119_120insCAT
XR_929703.1:n.2484+55_2484+56insCAT
NM_001353193.1:c.119_120insCAT	NP_001340122.1:n.119_120insCAT
NM_001353194.1:c.119_120insCAT	NP_001340123.1:n.119_120insCAT
NM_001353195.1:c.119_120insCAT	NP_001340124.1:n.119_120insCAT
NM_001353196.1:c.119_120insCAT	NP_001340125.1:n.119_120insCAT
NM_001353197.1:c.119_120insCAT	NP_001340126.1:n.119_120insCAT
NM_001353198.1:c.119_120insCAT	NP_001340127.1:n.119_120insCAT
NM_001353199.1:c.119_120insCAT	NP_001340128.1:n.119_120insCAT
NM_001353200.1:c.119_120insCAT	NP_001340129.1:n.119_120insCAT
NR_148391.1:n.2292+55_2292+56insCAT
NR_148392.1:n.2510+55_2510+56insCAT
NR_148393.1:n.2486_2487insCAT
NR_148394.1:n.2240_2241insCAT
NR_148395.1:n.2638_2639insCAT
NR_148396.1:n.2272_2273insCAT
NR_148397.1:n.2397_2398insCAT
NR_148398.1:n.2352_2353insCAT
NR_148399.1:n.2823+55_2823+56insCAT
NR_148400.1:n.2477_2478insCAT
XM_005272162.3:c.119_120insCAT	XP_005272219.1:n.119_120insCAT
XM_006716932.2:c.119_120insCAT	XP_006716995.1:n.119_120insCAT
XM_011518140.2:c.119_120insCAT	XP_011516442.1:n.119_120insCAT
XM_011518141.2:c.119_120insCAT	XP_011516443.1:n.119_120insCAT
XM_011518142.2:c.119_120insCAT	XP_011516444.1:n.119_120insCAT
XM_011518143.2:c.119_120insCAT	XP_011516445.1:n.119_120insCAT
XM_011518145.2:c.119_120insCAT	XP_011516447.1:n.119_120insCAT
XM_017014205.2:c.119_120insCAT	XP_016869694.1:n.119_120insCAT
XM_024447380.1:c.119_120insCAT	XP_024303148.1:n.119_120insCAT
XM_024447381.1:c.119_120insCAT	XP_024303149.1:n.119_120insCAT
XM_024447382.1:c.119_120insCAT	XP_024303150.1:n.119_120insCAT
XR_001746160.2:n.2412+55_2412+56insCAT
XR_001746162.2:n.2672_2673insCAT
XR_001746164.1:n.2389_2390insCAT
XR_001746166.2:n.2629+55_2629+56insCAT
NM_001077365.2:c.119_120insCAT MANE Select	NP_001070833.1:n.119_120insCAT
NM_001077366.2:c.119_120insCAT	NP_001070834.1:n.119_120insCAT
NM_001136113.2:c.119_120insCAT	NP_001129585.1:n.119_120insCAT
NM_001136114.2:c.119_120insCAT	NP_001129586.1:n.119_120insCAT
NM_001353193.2:c.119_120insCAT	NP_001340122.2:n.119_120insCAT
NM_001353194.2:c.119_120insCAT	NP_001340123.1:n.119_120insCAT
NM_001353195.2:c.119_120insCAT	NP_001340124.1:n.119_120insCAT
NM_001353196.2:c.119_120insCAT	NP_001340125.1:n.119_120insCAT
NM_001353197.2:c.119_120insCAT	NP_001340126.2:n.119_120insCAT
NM_001353198.2:c.119_120insCAT	NP_001340127.2:n.119_120insCAT
NM_001353199.2:c.119_120insCAT	NP_001340128.2:n.119_120insCAT
NM_001353200.2:c.119_120insCAT	NP_001340129.1:n.119_120insCAT
NM_001374689.1:c.119_120insCAT	NP_001361618.1:n.119_120insCAT
NM_001374690.1:c.119_120insCAT	NP_001361619.1:n.119_120insCAT
NM_001374691.1:c.119_120insCAT	NP_001361620.1:n.119_120insCAT
NM_001374692.1:c.119_120insCAT	NP_001361621.1:n.119_120insCAT
NM_001374693.1:c.119_120insCAT	NP_001361622.1:n.119_120insCAT
NM_001374695.1:c.119_120insCAT	NP_001361624.1:n.119_120insCAT
NM_007171.4:c.119_120insCAT	NP_009102.4:n.119_120insCAT
NR_148391.2:n.2276+55_2276+56insCAT
NR_148392.2:n.2494+55_2494+56insCAT
NR_148393.2:n.2470_2471insCAT
NR_148394.2:n.2224_2225insCAT
NR_148395.2:n.2622_2623insCAT
NR_148396.2:n.2256_2257insCAT
NR_148397.2:n.2381_2382insCAT
NR_148398.2:n.2336_2337insCAT
NR_148399.2:n.2807+55_2807+56insCAT
NR_148400.2:n.2461_2462insCAT

HGVS	Amino-acid Change
ENST00000341012.13:c.119_120insCAT	ENSP00000343034.7:n.119_120insCAT
ENST00000404875.7:n.2837_2838insCAT
ENST00000677295.2:c.2641_2642insCAT	ENSP00000504346.2:n.2641_2642insCAT
ENST00000678264.2:c.2480_2481insCAT	ENSP00000503157.2:n.2480_2481insCAT
ENST00000682070.1:n.2607_2608insCAT
ENST00000682639.1:c.239+55_239+56insCAT
ENST00000682813.1:n.2694_2695insCAT
ENST00000683231.1:c.239+55_239+56insCAT
ENST00000683392.1:n.4889_4890insCAT
ENST00000683900.1:n.4197_4198insCAT
ENST00000684062.1:n.2963_2964insCAT
ENST00000684399.1:c.239+55_239+56insCAT
ENST00000684579.1:n.4143_4144insCAT
ENST00000341012.12:c.119_120insCAT	ENSP00000343034.7:n.119_120insCAT
ENST00000372220.5:c.119_120insCAT	ENSP00000361294.5:n.119_120insCAT
ENST00000372228.9:c.119_120insCAT	ENSP00000361302.3:n.119_120insCAT
ENST00000402686.8:c.119_120insCAT MANE Select	ENSP00000385797.4:n.119_120insCAT
ENST00000676640.1:c.119_120insCAT	ENSP00000503281.1:n.119_120insCAT
ENST00000676803.1:c.119_120insCAT	ENSP00000503093.1:n.119_120insCAT
ENST00000676835.1:c.1512_1513insCAT	ENSP00000502911.1:n.1512_1513insCAT
ENST00000677029.1:c.119_120insCAT	ENSP00000502936.1:n.119_120insCAT
ENST00000677099.1:c.2007_2008insCAT	ENSP00000504553.1:n.2007_2008insCAT
ENST00000677216.1:c.119_120insCAT	ENSP00000503772.1:n.119_120insCAT
ENST00000677295.1:c.1519_1520insCAT	ENSP00000504346.1:n.1519_1520insCAT
ENST00000677444.1:c.2242_2243insCAT
ENST00000677626.1:c.119_120insCAT	ENSP00000503552.1:n.119_120insCAT
ENST00000677853.1:c.1305_1306insCAT	ENSP00000503488.1:n.1305_1306insCAT
ENST00000678303.1:c.119_120insCAT	ENSP00000503696.1:n.119_120insCAT
ENST00000678366.1:c.2546_2547insCAT	ENSP00000504353.1:n.2546_2547insCAT
ENST00000678546.1:c.2242_2243insCAT	ENSP00000503062.1:n.2242_2243insCAT
ENST00000678548.1:c.2436_2437insCAT	ENSP00000503934.1:n.2436_2437insCAT
ENST00000678626.1:n.2133_2134insCAT
ENST00000678739.1:c.2463_2464insCAT	ENSP00000503806.1:n.2463_2464insCAT
ENST00000678833.1:c.2049_2050insCAT	ENSP00000503893.1:n.2049_2050insCAT
ENST00000679023.1:c.64+55_64+56insCAT	ENSP00000503718.1:n.64+55_64+56insCAT
ENST00000679076.1:c.1916_1917insCAT
ENST00000679111.1:c.1053_1054insCAT	ENSP00000504257.1:n.1053_1054insCAT
ENST00000679189.1:c.119_120insCAT	ENSP00000503356.1:n.119_120insCAT
ENST00000341012.11:c.119_120insCAT	ENSP00000343034.7:n.119_120insCAT
ENST00000372220.4:c.1160_1161insCAT	ENSP00000361294.4:n.1160_1161insCAT
ENST00000372228.7:c.119_120insCAT	ENSP00000361302.3:n.119_120insCAT
ENST00000402686.7:c.119_120insCAT	ENSP00000385797.3:n.119_120insCAT
ENST00000404875.6:c.119_120insCAT	ENSP00000384531.2:n.119_120insCAT
ENST00000423007.5:c.119_120insCAT	ENSP00000404119.1:n.119_120insCAT
ENST00000485278.5:n.2847_2848insCAT
NM_001077365.1:c.119_120insCAT	NP_001070833.1:n.119_120insCAT
NM_001077366.1:c.119_120insCAT	NP_001070834.1:n.119_120insCAT
NM_001136113.1:c.119_120insCAT	NP_001129585.1:n.119_120insCAT
NM_001136114.1:c.119_120insCAT	NP_001129586.1:n.119_120insCAT
NM_007171.3:c.119_120insCAT	NP_009102.3:n.119_120insCAT
XM_005272156.1:c.119_120insCAT	XP_005272213.1:n.119_120insCAT
XM_005272158.1:c.119_120insCAT	XP_005272215.1:n.119_120insCAT
XM_005272159.1:c.119_120insCAT	XP_005272216.1:n.119_120insCAT
XM_005272162.1:c.119_120insCAT	XP_005272219.1:n.119_120insCAT
XM_006716932.1:c.119_120insCAT	XP_006716995.1:n.119_120insCAT
XM_011518140.1:c.119_120insCAT	XP_011516442.1:n.119_120insCAT
XM_011518141.1:c.119_120insCAT	XP_011516443.1:n.119_120insCAT
XM_011518142.1:c.119_120insCAT	XP_011516444.1:n.119_120insCAT
XM_011518143.1:c.119_120insCAT	XP_011516445.1:n.119_120insCAT
XM_011518145.1:c.119_120insCAT	XP_011516447.1:n.119_120insCAT
XM_011518147.1:c.119_120insCAT	XP_011516449.1:n.119_120insCAT
XR_929703.1:n.2484+55_2484+56insCAT
NM_001353193.1:c.119_120insCAT	NP_001340122.1:n.119_120insCAT
NM_001353194.1:c.119_120insCAT	NP_001340123.1:n.119_120insCAT
NM_001353195.1:c.119_120insCAT	NP_001340124.1:n.119_120insCAT
NM_001353196.1:c.119_120insCAT	NP_001340125.1:n.119_120insCAT
NM_001353197.1:c.119_120insCAT	NP_001340126.1:n.119_120insCAT
NM_001353198.1:c.119_120insCAT	NP_001340127.1:n.119_120insCAT
NM_001353199.1:c.119_120insCAT	NP_001340128.1:n.119_120insCAT
NM_001353200.1:c.119_120insCAT	NP_001340129.1:n.119_120insCAT
NR_148391.1:n.2292+55_2292+56insCAT
NR_148392.1:n.2510+55_2510+56insCAT
NR_148393.1:n.2486_2487insCAT
NR_148394.1:n.2240_2241insCAT
NR_148395.1:n.2638_2639insCAT
NR_148396.1:n.2272_2273insCAT
NR_148397.1:n.2397_2398insCAT
NR_148398.1:n.2352_2353insCAT
NR_148399.1:n.2823+55_2823+56insCAT
NR_148400.1:n.2477_2478insCAT
XM_005272162.3:c.119_120insCAT	XP_005272219.1:n.119_120insCAT
XM_006716932.2:c.119_120insCAT	XP_006716995.1:n.119_120insCAT
XM_011518140.2:c.119_120insCAT	XP_011516442.1:n.119_120insCAT
XM_011518141.2:c.119_120insCAT	XP_011516443.1:n.119_120insCAT
XM_011518142.2:c.119_120insCAT	XP_011516444.1:n.119_120insCAT
XM_011518143.2:c.119_120insCAT	XP_011516445.1:n.119_120insCAT
XM_011518145.2:c.119_120insCAT	XP_011516447.1:n.119_120insCAT
XM_017014205.2:c.119_120insCAT	XP_016869694.1:n.119_120insCAT
XM_024447380.1:c.119_120insCAT	XP_024303148.1:n.119_120insCAT
XM_024447381.1:c.119_120insCAT	XP_024303149.1:n.119_120insCAT
XM_024447382.1:c.119_120insCAT	XP_024303150.1:n.119_120insCAT
XR_001746160.2:n.2412+55_2412+56insCAT
XR_001746162.2:n.2672_2673insCAT
XR_001746164.1:n.2389_2390insCAT
XR_001746166.2:n.2629+55_2629+56insCAT
NM_001077365.2:c.119_120insCAT MANE Select	NP_001070833.1:n.119_120insCAT
NM_001077366.2:c.119_120insCAT	NP_001070834.1:n.119_120insCAT
NM_001136113.2:c.119_120insCAT	NP_001129585.1:n.119_120insCAT
NM_001136114.2:c.119_120insCAT	NP_001129586.1:n.119_120insCAT
NM_001353193.2:c.119_120insCAT	NP_001340122.2:n.119_120insCAT
NM_001353194.2:c.119_120insCAT	NP_001340123.1:n.119_120insCAT
NM_001353195.2:c.119_120insCAT	NP_001340124.1:n.119_120insCAT
NM_001353196.2:c.119_120insCAT	NP_001340125.1:n.119_120insCAT
NM_001353197.2:c.119_120insCAT	NP_001340126.2:n.119_120insCAT
NM_001353198.2:c.119_120insCAT	NP_001340127.2:n.119_120insCAT
NM_001353199.2:c.119_120insCAT	NP_001340128.2:n.119_120insCAT
NM_001353200.2:c.119_120insCAT	NP_001340129.1:n.119_120insCAT
NM_001374689.1:c.119_120insCAT	NP_001361618.1:n.119_120insCAT
NM_001374690.1:c.119_120insCAT	NP_001361619.1:n.119_120insCAT
NM_001374691.1:c.119_120insCAT	NP_001361620.1:n.119_120insCAT
NM_001374692.1:c.119_120insCAT	NP_001361621.1:n.119_120insCAT
NM_001374693.1:c.119_120insCAT	NP_001361622.1:n.119_120insCAT
NM_001374695.1:c.119_120insCAT	NP_001361624.1:n.119_120insCAT
NM_007171.4:c.119_120insCAT	NP_009102.4:n.119_120insCAT
NR_148391.2:n.2276+55_2276+56insCAT
NR_148392.2:n.2494+55_2494+56insCAT
NR_148393.2:n.2470_2471insCAT
NR_148394.2:n.2224_2225insCAT
NR_148395.2:n.2622_2623insCAT
NR_148396.2:n.2256_2257insCAT
NR_148397.2:n.2381_2382insCAT
NR_148398.2:n.2336_2337insCAT
NR_148399.2:n.2807+55_2807+56insCAT
NR_148400.2:n.2461_2462insCAT

Linked Data

Genomic Alleles

Transcript Alleles