Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523500_131523501del , CM000671.2:g.131523500_131523501del	GRCh38
NC_000009.11:g.134398887_134398888del , CM000671.1:g.134398887_134398888del	GRCh37
NC_000009.10:g.133388708_133388709del	NCBI36
NG_008896.1:g.25599_25600del
NG_008896.2:g.25599_25600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.394_395del	ENSP00000343034.7:n.394_395del
ENST00000404875.7:n.3112_3113del
ENST00000677295.2:c.2916_2917del	ENSP00000504346.2:n.2916_2917del
ENST00000678264.2:c.2755_2756del	ENSP00000503157.2:n.2755_2756del
ENST00000682070.1:n.2882_2883del
ENST00000682639.1:c.277_278del
ENST00000682813.1:n.2969_2970del
ENST00000683231.1:c.422_423del
ENST00000683392.1:n.5164_5165del
ENST00000683900.1:n.4472_4473del
ENST00000684062.1:n.3238_3239del
ENST00000684399.1:c.387_388del
ENST00000684579.1:n.4418_4419del
ENST00000341012.12:c.394_395del	ENSP00000343034.7:n.394_395del
ENST00000372220.5:c.394_395del	ENSP00000361294.5:n.394_395del
ENST00000372228.9:c.394_395del	ENSP00000361302.3:n.394_395del
ENST00000402686.8:c.394_395del MANE Select	ENSP00000385797.4:n.394_395del
ENST00000676640.1:c.394_395del	ENSP00000503281.1:n.394_395del
ENST00000676803.1:c.394_395del	ENSP00000503093.1:n.394_395del
ENST00000676835.1:c.1787_1788del	ENSP00000502911.1:n.1787_1788del
ENST00000677295.1:c.1794_1795del	ENSP00000504346.1:n.1794_1795del
ENST00000677444.1:c.2517_2518del
ENST00000677626.1:c.394_395del	ENSP00000503552.1:n.394_395del
ENST00000677853.1:c.1580_1581del	ENSP00000503488.1:n.1580_1581del
ENST00000678546.1:c.2517_2518del	ENSP00000503062.1:n.2517_2518del
ENST00000678548.1:c.2711_2712del	ENSP00000503934.1:n.2711_2712del
ENST00000678626.1:n.2408_2409del
ENST00000678739.1:c.2738_2739del	ENSP00000503806.1:n.2738_2739del
ENST00000678833.1:c.2324_2325del	ENSP00000503893.1:n.2324_2325del
ENST00000679023.1:c.218_219del	ENSP00000503718.1:n.218_219del
ENST00000679076.1:c.2191_2192del
ENST00000679111.1:c.1328_1329del	ENSP00000504257.1:n.1328_1329del
ENST00000341012.11:c.394_395del	ENSP00000343034.7:n.394_395del
ENST00000372220.4:c.1435_1436del	ENSP00000361294.4:n.1435_1436del
ENST00000372228.7:c.394_395del	ENSP00000361302.3:n.394_395del
ENST00000402686.7:c.394_395del	ENSP00000385797.3:n.394_395del
ENST00000404875.6:c.394_395del	ENSP00000384531.2:n.394_395del
ENST00000423007.5:c.394_395del	ENSP00000404119.1:n.394_395del
ENST00000485278.5:n.3122_3123del
NM_001077365.1:c.394_395del	NP_001070833.1:n.394_395del
NM_001077366.1:c.394_395del	NP_001070834.1:n.394_395del
NM_001136113.1:c.394_395del	NP_001129585.1:n.394_395del
NM_001136114.1:c.394_395del	NP_001129586.1:n.394_395del
NM_007171.3:c.394_395del	NP_009102.3:n.394_395del
XM_005272156.1:c.394_395del	XP_005272213.1:n.394_395del
XM_005272158.1:c.394_395del	XP_005272215.1:n.394_395del
XM_005272159.1:c.394_395del	XP_005272216.1:n.394_395del
XM_005272162.1:c.394_395del	XP_005272219.1:n.394_395del
XM_006716932.1:c.394_395del	XP_006716995.1:n.394_395del
XM_011518140.1:c.394_395del	XP_011516442.1:n.394_395del
XM_011518141.1:c.394_395del	XP_011516443.1:n.394_395del
XM_011518142.1:c.394_395del	XP_011516444.1:n.394_395del
XM_011518143.1:c.394_395del	XP_011516445.1:n.394_395del
XM_011518145.1:c.394_395del	XP_011516447.1:n.394_395del
XM_011518147.1:c.394_395del	XP_011516449.1:n.394_395del
XR_929703.1:n.2638_2639del
NM_001353193.1:c.394_395del	NP_001340122.1:n.394_395del
NM_001353194.1:c.394_395del	NP_001340123.1:n.394_395del
NM_001353195.1:c.394_395del	NP_001340124.1:n.394_395del
NM_001353196.1:c.394_395del	NP_001340125.1:n.394_395del
NM_001353197.1:c.394_395del	NP_001340126.1:n.394_395del
NM_001353198.1:c.394_395del	NP_001340127.1:n.394_395del
NM_001353199.1:c.394_395del	NP_001340128.1:n.394_395del
NM_001353200.1:c.394_395del	NP_001340129.1:n.394_395del
NR_148391.1:n.2446_2447del
NR_148392.1:n.2664_2665del
NR_148393.1:n.2761_2762del
NR_148394.1:n.2515_2516del
NR_148395.1:n.2913_2914del
NR_148396.1:n.2547_2548del
NR_148397.1:n.2672_2673del
NR_148398.1:n.2627_2628del
NR_148399.1:n.2977_2978del
NR_148400.1:n.2752_2753del
XM_005272162.3:c.394_395del	XP_005272219.1:n.394_395del
XM_006716932.2:c.394_395del	XP_006716995.1:n.394_395del
XM_011518140.2:c.394_395del	XP_011516442.1:n.394_395del
XM_011518141.2:c.394_395del	XP_011516443.1:n.394_395del
XM_011518142.2:c.394_395del	XP_011516444.1:n.394_395del
XM_011518143.2:c.394_395del	XP_011516445.1:n.394_395del
XM_011518145.2:c.394_395del	XP_011516447.1:n.394_395del
XM_017014205.2:c.394_395del	XP_016869694.1:n.394_395del
XM_024447380.1:c.394_395del	XP_024303148.1:n.394_395del
XM_024447381.1:c.394_395del	XP_024303149.1:n.394_395del
XM_024447382.1:c.394_395del	XP_024303150.1:n.394_395del
XR_001746160.2:n.2566_2567del
XR_001746162.2:n.2947_2948del
XR_001746164.1:n.2664_2665del
XR_001746166.2:n.2783_2784del
NM_001077365.2:c.394_395del MANE Select	NP_001070833.1:n.394_395del
NM_001077366.2:c.394_395del	NP_001070834.1:n.394_395del
NM_001136113.2:c.394_395del	NP_001129585.1:n.394_395del
NM_001136114.2:c.394_395del	NP_001129586.1:n.394_395del
NM_001353193.2:c.394_395del	NP_001340122.2:n.394_395del
NM_001353194.2:c.394_395del	NP_001340123.1:n.394_395del
NM_001353195.2:c.394_395del	NP_001340124.1:n.394_395del
NM_001353196.2:c.394_395del	NP_001340125.1:n.394_395del
NM_001353197.2:c.394_395del	NP_001340126.2:n.394_395del
NM_001353198.2:c.394_395del	NP_001340127.2:n.394_395del
NM_001353199.2:c.394_395del	NP_001340128.2:n.394_395del
NM_001353200.2:c.394_395del	NP_001340129.1:n.394_395del
NM_001374689.1:c.394_395del	NP_001361618.1:n.394_395del
NM_001374690.1:c.394_395del	NP_001361619.1:n.394_395del
NM_001374691.1:c.394_395del	NP_001361620.1:n.394_395del
NM_001374692.1:c.394_395del	NP_001361621.1:n.394_395del
NM_001374693.1:c.394_395del	NP_001361622.1:n.394_395del
NM_001374695.1:c.394_395del	NP_001361624.1:n.394_395del
NM_007171.4:c.394_395del	NP_009102.4:n.394_395del
NR_148391.2:n.2430_2431del
NR_148392.2:n.2648_2649del
NR_148393.2:n.2745_2746del
NR_148394.2:n.2499_2500del
NR_148395.2:n.2897_2898del
NR_148396.2:n.2531_2532del
NR_148397.2:n.2656_2657del
NR_148398.2:n.2611_2612del
NR_148399.2:n.2961_2962del
NR_148400.2:n.2736_2737del

HGVS	Amino-acid Change
ENST00000341012.13:c.394_395del	ENSP00000343034.7:n.394_395del
ENST00000404875.7:n.3112_3113del
ENST00000677295.2:c.2916_2917del	ENSP00000504346.2:n.2916_2917del
ENST00000678264.2:c.2755_2756del	ENSP00000503157.2:n.2755_2756del
ENST00000682070.1:n.2882_2883del
ENST00000682639.1:c.277_278del
ENST00000682813.1:n.2969_2970del
ENST00000683231.1:c.422_423del
ENST00000683392.1:n.5164_5165del
ENST00000683900.1:n.4472_4473del
ENST00000684062.1:n.3238_3239del
ENST00000684399.1:c.387_388del
ENST00000684579.1:n.4418_4419del
ENST00000341012.12:c.394_395del	ENSP00000343034.7:n.394_395del
ENST00000372220.5:c.394_395del	ENSP00000361294.5:n.394_395del
ENST00000372228.9:c.394_395del	ENSP00000361302.3:n.394_395del
ENST00000402686.8:c.394_395del MANE Select	ENSP00000385797.4:n.394_395del
ENST00000676640.1:c.394_395del	ENSP00000503281.1:n.394_395del
ENST00000676803.1:c.394_395del	ENSP00000503093.1:n.394_395del
ENST00000676835.1:c.1787_1788del	ENSP00000502911.1:n.1787_1788del
ENST00000677295.1:c.1794_1795del	ENSP00000504346.1:n.1794_1795del
ENST00000677444.1:c.2517_2518del
ENST00000677626.1:c.394_395del	ENSP00000503552.1:n.394_395del
ENST00000677853.1:c.1580_1581del	ENSP00000503488.1:n.1580_1581del
ENST00000678546.1:c.2517_2518del	ENSP00000503062.1:n.2517_2518del
ENST00000678548.1:c.2711_2712del	ENSP00000503934.1:n.2711_2712del
ENST00000678626.1:n.2408_2409del
ENST00000678739.1:c.2738_2739del	ENSP00000503806.1:n.2738_2739del
ENST00000678833.1:c.2324_2325del	ENSP00000503893.1:n.2324_2325del
ENST00000679023.1:c.218_219del	ENSP00000503718.1:n.218_219del
ENST00000679076.1:c.2191_2192del
ENST00000679111.1:c.1328_1329del	ENSP00000504257.1:n.1328_1329del
ENST00000341012.11:c.394_395del	ENSP00000343034.7:n.394_395del
ENST00000372220.4:c.1435_1436del	ENSP00000361294.4:n.1435_1436del
ENST00000372228.7:c.394_395del	ENSP00000361302.3:n.394_395del
ENST00000402686.7:c.394_395del	ENSP00000385797.3:n.394_395del
ENST00000404875.6:c.394_395del	ENSP00000384531.2:n.394_395del
ENST00000423007.5:c.394_395del	ENSP00000404119.1:n.394_395del
ENST00000485278.5:n.3122_3123del
NM_001077365.1:c.394_395del	NP_001070833.1:n.394_395del
NM_001077366.1:c.394_395del	NP_001070834.1:n.394_395del
NM_001136113.1:c.394_395del	NP_001129585.1:n.394_395del
NM_001136114.1:c.394_395del	NP_001129586.1:n.394_395del
NM_007171.3:c.394_395del	NP_009102.3:n.394_395del
XM_005272156.1:c.394_395del	XP_005272213.1:n.394_395del
XM_005272158.1:c.394_395del	XP_005272215.1:n.394_395del
XM_005272159.1:c.394_395del	XP_005272216.1:n.394_395del
XM_005272162.1:c.394_395del	XP_005272219.1:n.394_395del
XM_006716932.1:c.394_395del	XP_006716995.1:n.394_395del
XM_011518140.1:c.394_395del	XP_011516442.1:n.394_395del
XM_011518141.1:c.394_395del	XP_011516443.1:n.394_395del
XM_011518142.1:c.394_395del	XP_011516444.1:n.394_395del
XM_011518143.1:c.394_395del	XP_011516445.1:n.394_395del
XM_011518145.1:c.394_395del	XP_011516447.1:n.394_395del
XM_011518147.1:c.394_395del	XP_011516449.1:n.394_395del
XR_929703.1:n.2638_2639del
NM_001353193.1:c.394_395del	NP_001340122.1:n.394_395del
NM_001353194.1:c.394_395del	NP_001340123.1:n.394_395del
NM_001353195.1:c.394_395del	NP_001340124.1:n.394_395del
NM_001353196.1:c.394_395del	NP_001340125.1:n.394_395del
NM_001353197.1:c.394_395del	NP_001340126.1:n.394_395del
NM_001353198.1:c.394_395del	NP_001340127.1:n.394_395del
NM_001353199.1:c.394_395del	NP_001340128.1:n.394_395del
NM_001353200.1:c.394_395del	NP_001340129.1:n.394_395del
NR_148391.1:n.2446_2447del
NR_148392.1:n.2664_2665del
NR_148393.1:n.2761_2762del
NR_148394.1:n.2515_2516del
NR_148395.1:n.2913_2914del
NR_148396.1:n.2547_2548del
NR_148397.1:n.2672_2673del
NR_148398.1:n.2627_2628del
NR_148399.1:n.2977_2978del
NR_148400.1:n.2752_2753del
XM_005272162.3:c.394_395del	XP_005272219.1:n.394_395del
XM_006716932.2:c.394_395del	XP_006716995.1:n.394_395del
XM_011518140.2:c.394_395del	XP_011516442.1:n.394_395del
XM_011518141.2:c.394_395del	XP_011516443.1:n.394_395del
XM_011518142.2:c.394_395del	XP_011516444.1:n.394_395del
XM_011518143.2:c.394_395del	XP_011516445.1:n.394_395del
XM_011518145.2:c.394_395del	XP_011516447.1:n.394_395del
XM_017014205.2:c.394_395del	XP_016869694.1:n.394_395del
XM_024447380.1:c.394_395del	XP_024303148.1:n.394_395del
XM_024447381.1:c.394_395del	XP_024303149.1:n.394_395del
XM_024447382.1:c.394_395del	XP_024303150.1:n.394_395del
XR_001746160.2:n.2566_2567del
XR_001746162.2:n.2947_2948del
XR_001746164.1:n.2664_2665del
XR_001746166.2:n.2783_2784del
NM_001077365.2:c.394_395del MANE Select	NP_001070833.1:n.394_395del
NM_001077366.2:c.394_395del	NP_001070834.1:n.394_395del
NM_001136113.2:c.394_395del	NP_001129585.1:n.394_395del
NM_001136114.2:c.394_395del	NP_001129586.1:n.394_395del
NM_001353193.2:c.394_395del	NP_001340122.2:n.394_395del
NM_001353194.2:c.394_395del	NP_001340123.1:n.394_395del
NM_001353195.2:c.394_395del	NP_001340124.1:n.394_395del
NM_001353196.2:c.394_395del	NP_001340125.1:n.394_395del
NM_001353197.2:c.394_395del	NP_001340126.2:n.394_395del
NM_001353198.2:c.394_395del	NP_001340127.2:n.394_395del
NM_001353199.2:c.394_395del	NP_001340128.2:n.394_395del
NM_001353200.2:c.394_395del	NP_001340129.1:n.394_395del
NM_001374689.1:c.394_395del	NP_001361618.1:n.394_395del
NM_001374690.1:c.394_395del	NP_001361619.1:n.394_395del
NM_001374691.1:c.394_395del	NP_001361620.1:n.394_395del
NM_001374692.1:c.394_395del	NP_001361621.1:n.394_395del
NM_001374693.1:c.394_395del	NP_001361622.1:n.394_395del
NM_001374695.1:c.394_395del	NP_001361624.1:n.394_395del
NM_007171.4:c.394_395del	NP_009102.4:n.394_395del
NR_148391.2:n.2430_2431del
NR_148392.2:n.2648_2649del
NR_148393.2:n.2745_2746del
NR_148394.2:n.2499_2500del
NR_148395.2:n.2897_2898del
NR_148396.2:n.2531_2532del
NR_148397.2:n.2656_2657del
NR_148398.2:n.2611_2612del
NR_148399.2:n.2961_2962del
NR_148400.2:n.2736_2737del

Linked Data

Genomic Alleles

Transcript Alleles