Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523533_131523536del , CM000671.2:g.131523533_131523536del	GRCh38
NC_000009.11:g.134398920_134398923del , CM000671.1:g.134398920_134398923del	GRCh37
NC_000009.10:g.133388741_133388744del	NCBI36
NG_008896.1:g.25632_25635del
NG_008896.2:g.25632_25635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.427_430del	ENSP00000343034.7:n.427_430del
ENST00000404875.7:n.3145_3148del
ENST00000677295.2:c.2949_2952del	ENSP00000504346.2:n.2949_2952del
ENST00000678264.2:c.2788_2791del	ENSP00000503157.2:n.2788_2791del
ENST00000682070.1:n.2915_2918del
ENST00000682639.1:c.310_313del
ENST00000682813.1:n.3002_3005del
ENST00000683231.1:c.455_458del
ENST00000683392.1:n.5197_5200del
ENST00000683900.1:n.4505_4508del
ENST00000684062.1:n.3271_3274del
ENST00000684399.1:c.420_423del
ENST00000684579.1:n.4451_4454del
ENST00000341012.12:c.427_430del	ENSP00000343034.7:n.427_430del
ENST00000372220.5:c.427_430del	ENSP00000361294.5:n.427_430del
ENST00000372228.9:c.427_430del	ENSP00000361302.3:n.427_430del
ENST00000402686.8:c.427_430del MANE Select	ENSP00000385797.4:n.427_430del
ENST00000676640.1:c.427_430del	ENSP00000503281.1:n.427_430del
ENST00000676803.1:c.427_430del	ENSP00000503093.1:n.427_430del
ENST00000676835.1:c.1820_1823del	ENSP00000502911.1:n.1820_1823del
ENST00000677295.1:c.1827_1830del	ENSP00000504346.1:n.1827_1830del
ENST00000677444.1:c.2550_2553del
ENST00000677626.1:c.427_430del	ENSP00000503552.1:n.427_430del
ENST00000677853.1:c.1613_1616del	ENSP00000503488.1:n.1613_1616del
ENST00000678546.1:c.2550_2553del	ENSP00000503062.1:n.2550_2553del
ENST00000678548.1:c.2744_2747del	ENSP00000503934.1:n.2744_2747del
ENST00000678626.1:n.2441_2444del
ENST00000678739.1:c.2771_2774del	ENSP00000503806.1:n.2771_2774del
ENST00000678833.1:c.2357_2360del	ENSP00000503893.1:n.2357_2360del
ENST00000679023.1:c.251_254del	ENSP00000503718.1:n.251_254del
ENST00000679076.1:c.2224_2227del
ENST00000679111.1:c.1361_1364del	ENSP00000504257.1:n.1361_1364del
ENST00000341012.11:c.427_430del	ENSP00000343034.7:n.427_430del
ENST00000372220.4:c.1468_1471del	ENSP00000361294.4:n.1468_1471del
ENST00000372228.7:c.427_430del	ENSP00000361302.3:n.427_430del
ENST00000402686.7:c.427_430del	ENSP00000385797.3:n.427_430del
ENST00000404875.6:c.427_430del	ENSP00000384531.2:n.427_430del
ENST00000423007.5:c.427_430del	ENSP00000404119.1:n.427_430del
ENST00000485278.5:n.3155_3158del
NM_001077365.1:c.427_430del	NP_001070833.1:n.427_430del
NM_001077366.1:c.427_430del	NP_001070834.1:n.427_430del
NM_001136113.1:c.427_430del	NP_001129585.1:n.427_430del
NM_001136114.1:c.427_430del	NP_001129586.1:n.427_430del
NM_007171.3:c.427_430del	NP_009102.3:n.427_430del
XM_005272156.1:c.427_430del	XP_005272213.1:n.427_430del
XM_005272158.1:c.427_430del	XP_005272215.1:n.427_430del
XM_005272159.1:c.427_430del	XP_005272216.1:n.427_430del
XM_005272162.1:c.427_430del	XP_005272219.1:n.427_430del
XM_006716932.1:c.427_430del	XP_006716995.1:n.427_430del
XM_011518140.1:c.427_430del	XP_011516442.1:n.427_430del
XM_011518141.1:c.427_430del	XP_011516443.1:n.427_430del
XM_011518142.1:c.427_430del	XP_011516444.1:n.427_430del
XM_011518143.1:c.427_430del	XP_011516445.1:n.427_430del
XM_011518145.1:c.427_430del	XP_011516447.1:n.427_430del
XM_011518147.1:c.427_430del	XP_011516449.1:n.427_430del
XR_929703.1:n.2671_2674del
NM_001353193.1:c.427_430del	NP_001340122.1:n.427_430del
NM_001353194.1:c.427_430del	NP_001340123.1:n.427_430del
NM_001353195.1:c.427_430del	NP_001340124.1:n.427_430del
NM_001353196.1:c.427_430del	NP_001340125.1:n.427_430del
NM_001353197.1:c.427_430del	NP_001340126.1:n.427_430del
NM_001353198.1:c.427_430del	NP_001340127.1:n.427_430del
NM_001353199.1:c.427_430del	NP_001340128.1:n.427_430del
NM_001353200.1:c.427_430del	NP_001340129.1:n.427_430del
NR_148391.1:n.2479_2482del
NR_148392.1:n.2697_2700del
NR_148393.1:n.2794_2797del
NR_148394.1:n.2548_2551del
NR_148395.1:n.2946_2949del
NR_148396.1:n.2580_2583del
NR_148397.1:n.2705_2708del
NR_148398.1:n.2660_2663del
NR_148399.1:n.3010_3013del
NR_148400.1:n.2785_2788del
XM_005272162.3:c.427_430del	XP_005272219.1:n.427_430del
XM_006716932.2:c.427_430del	XP_006716995.1:n.427_430del
XM_011518140.2:c.427_430del	XP_011516442.1:n.427_430del
XM_011518141.2:c.427_430del	XP_011516443.1:n.427_430del
XM_011518142.2:c.427_430del	XP_011516444.1:n.427_430del
XM_011518143.2:c.427_430del	XP_011516445.1:n.427_430del
XM_011518145.2:c.427_430del	XP_011516447.1:n.427_430del
XM_017014205.2:c.427_430del	XP_016869694.1:n.427_430del
XM_024447380.1:c.427_430del	XP_024303148.1:n.427_430del
XM_024447381.1:c.427_430del	XP_024303149.1:n.427_430del
XM_024447382.1:c.427_430del	XP_024303150.1:n.427_430del
XR_001746160.2:n.2599_2602del
XR_001746162.2:n.2980_2983del
XR_001746164.1:n.2697_2700del
XR_001746166.2:n.2816_2819del
NM_001077365.2:c.427_430del MANE Select	NP_001070833.1:n.427_430del
NM_001077366.2:c.427_430del	NP_001070834.1:n.427_430del
NM_001136113.2:c.427_430del	NP_001129585.1:n.427_430del
NM_001136114.2:c.427_430del	NP_001129586.1:n.427_430del
NM_001353193.2:c.427_430del	NP_001340122.2:n.427_430del
NM_001353194.2:c.427_430del	NP_001340123.1:n.427_430del
NM_001353195.2:c.427_430del	NP_001340124.1:n.427_430del
NM_001353196.2:c.427_430del	NP_001340125.1:n.427_430del
NM_001353197.2:c.427_430del	NP_001340126.2:n.427_430del
NM_001353198.2:c.427_430del	NP_001340127.2:n.427_430del
NM_001353199.2:c.427_430del	NP_001340128.2:n.427_430del
NM_001353200.2:c.427_430del	NP_001340129.1:n.427_430del
NM_001374689.1:c.427_430del	NP_001361618.1:n.427_430del
NM_001374690.1:c.427_430del	NP_001361619.1:n.427_430del
NM_001374691.1:c.427_430del	NP_001361620.1:n.427_430del
NM_001374692.1:c.427_430del	NP_001361621.1:n.427_430del
NM_001374693.1:c.427_430del	NP_001361622.1:n.427_430del
NM_001374695.1:c.427_430del	NP_001361624.1:n.427_430del
NM_007171.4:c.427_430del	NP_009102.4:n.427_430del
NR_148391.2:n.2463_2466del
NR_148392.2:n.2681_2684del
NR_148393.2:n.2778_2781del
NR_148394.2:n.2532_2535del
NR_148395.2:n.2930_2933del
NR_148396.2:n.2564_2567del
NR_148397.2:n.2689_2692del
NR_148398.2:n.2644_2647del
NR_148399.2:n.2994_2997del
NR_148400.2:n.2769_2772del

HGVS	Amino-acid Change
ENST00000341012.13:c.427_430del	ENSP00000343034.7:n.427_430del
ENST00000404875.7:n.3145_3148del
ENST00000677295.2:c.2949_2952del	ENSP00000504346.2:n.2949_2952del
ENST00000678264.2:c.2788_2791del	ENSP00000503157.2:n.2788_2791del
ENST00000682070.1:n.2915_2918del
ENST00000682639.1:c.310_313del
ENST00000682813.1:n.3002_3005del
ENST00000683231.1:c.455_458del
ENST00000683392.1:n.5197_5200del
ENST00000683900.1:n.4505_4508del
ENST00000684062.1:n.3271_3274del
ENST00000684399.1:c.420_423del
ENST00000684579.1:n.4451_4454del
ENST00000341012.12:c.427_430del	ENSP00000343034.7:n.427_430del
ENST00000372220.5:c.427_430del	ENSP00000361294.5:n.427_430del
ENST00000372228.9:c.427_430del	ENSP00000361302.3:n.427_430del
ENST00000402686.8:c.427_430del MANE Select	ENSP00000385797.4:n.427_430del
ENST00000676640.1:c.427_430del	ENSP00000503281.1:n.427_430del
ENST00000676803.1:c.427_430del	ENSP00000503093.1:n.427_430del
ENST00000676835.1:c.1820_1823del	ENSP00000502911.1:n.1820_1823del
ENST00000677295.1:c.1827_1830del	ENSP00000504346.1:n.1827_1830del
ENST00000677444.1:c.2550_2553del
ENST00000677626.1:c.427_430del	ENSP00000503552.1:n.427_430del
ENST00000677853.1:c.1613_1616del	ENSP00000503488.1:n.1613_1616del
ENST00000678546.1:c.2550_2553del	ENSP00000503062.1:n.2550_2553del
ENST00000678548.1:c.2744_2747del	ENSP00000503934.1:n.2744_2747del
ENST00000678626.1:n.2441_2444del
ENST00000678739.1:c.2771_2774del	ENSP00000503806.1:n.2771_2774del
ENST00000678833.1:c.2357_2360del	ENSP00000503893.1:n.2357_2360del
ENST00000679023.1:c.251_254del	ENSP00000503718.1:n.251_254del
ENST00000679076.1:c.2224_2227del
ENST00000679111.1:c.1361_1364del	ENSP00000504257.1:n.1361_1364del
ENST00000341012.11:c.427_430del	ENSP00000343034.7:n.427_430del
ENST00000372220.4:c.1468_1471del	ENSP00000361294.4:n.1468_1471del
ENST00000372228.7:c.427_430del	ENSP00000361302.3:n.427_430del
ENST00000402686.7:c.427_430del	ENSP00000385797.3:n.427_430del
ENST00000404875.6:c.427_430del	ENSP00000384531.2:n.427_430del
ENST00000423007.5:c.427_430del	ENSP00000404119.1:n.427_430del
ENST00000485278.5:n.3155_3158del
NM_001077365.1:c.427_430del	NP_001070833.1:n.427_430del
NM_001077366.1:c.427_430del	NP_001070834.1:n.427_430del
NM_001136113.1:c.427_430del	NP_001129585.1:n.427_430del
NM_001136114.1:c.427_430del	NP_001129586.1:n.427_430del
NM_007171.3:c.427_430del	NP_009102.3:n.427_430del
XM_005272156.1:c.427_430del	XP_005272213.1:n.427_430del
XM_005272158.1:c.427_430del	XP_005272215.1:n.427_430del
XM_005272159.1:c.427_430del	XP_005272216.1:n.427_430del
XM_005272162.1:c.427_430del	XP_005272219.1:n.427_430del
XM_006716932.1:c.427_430del	XP_006716995.1:n.427_430del
XM_011518140.1:c.427_430del	XP_011516442.1:n.427_430del
XM_011518141.1:c.427_430del	XP_011516443.1:n.427_430del
XM_011518142.1:c.427_430del	XP_011516444.1:n.427_430del
XM_011518143.1:c.427_430del	XP_011516445.1:n.427_430del
XM_011518145.1:c.427_430del	XP_011516447.1:n.427_430del
XM_011518147.1:c.427_430del	XP_011516449.1:n.427_430del
XR_929703.1:n.2671_2674del
NM_001353193.1:c.427_430del	NP_001340122.1:n.427_430del
NM_001353194.1:c.427_430del	NP_001340123.1:n.427_430del
NM_001353195.1:c.427_430del	NP_001340124.1:n.427_430del
NM_001353196.1:c.427_430del	NP_001340125.1:n.427_430del
NM_001353197.1:c.427_430del	NP_001340126.1:n.427_430del
NM_001353198.1:c.427_430del	NP_001340127.1:n.427_430del
NM_001353199.1:c.427_430del	NP_001340128.1:n.427_430del
NM_001353200.1:c.427_430del	NP_001340129.1:n.427_430del
NR_148391.1:n.2479_2482del
NR_148392.1:n.2697_2700del
NR_148393.1:n.2794_2797del
NR_148394.1:n.2548_2551del
NR_148395.1:n.2946_2949del
NR_148396.1:n.2580_2583del
NR_148397.1:n.2705_2708del
NR_148398.1:n.2660_2663del
NR_148399.1:n.3010_3013del
NR_148400.1:n.2785_2788del
XM_005272162.3:c.427_430del	XP_005272219.1:n.427_430del
XM_006716932.2:c.427_430del	XP_006716995.1:n.427_430del
XM_011518140.2:c.427_430del	XP_011516442.1:n.427_430del
XM_011518141.2:c.427_430del	XP_011516443.1:n.427_430del
XM_011518142.2:c.427_430del	XP_011516444.1:n.427_430del
XM_011518143.2:c.427_430del	XP_011516445.1:n.427_430del
XM_011518145.2:c.427_430del	XP_011516447.1:n.427_430del
XM_017014205.2:c.427_430del	XP_016869694.1:n.427_430del
XM_024447380.1:c.427_430del	XP_024303148.1:n.427_430del
XM_024447381.1:c.427_430del	XP_024303149.1:n.427_430del
XM_024447382.1:c.427_430del	XP_024303150.1:n.427_430del
XR_001746160.2:n.2599_2602del
XR_001746162.2:n.2980_2983del
XR_001746164.1:n.2697_2700del
XR_001746166.2:n.2816_2819del
NM_001077365.2:c.427_430del MANE Select	NP_001070833.1:n.427_430del
NM_001077366.2:c.427_430del	NP_001070834.1:n.427_430del
NM_001136113.2:c.427_430del	NP_001129585.1:n.427_430del
NM_001136114.2:c.427_430del	NP_001129586.1:n.427_430del
NM_001353193.2:c.427_430del	NP_001340122.2:n.427_430del
NM_001353194.2:c.427_430del	NP_001340123.1:n.427_430del
NM_001353195.2:c.427_430del	NP_001340124.1:n.427_430del
NM_001353196.2:c.427_430del	NP_001340125.1:n.427_430del
NM_001353197.2:c.427_430del	NP_001340126.2:n.427_430del
NM_001353198.2:c.427_430del	NP_001340127.2:n.427_430del
NM_001353199.2:c.427_430del	NP_001340128.2:n.427_430del
NM_001353200.2:c.427_430del	NP_001340129.1:n.427_430del
NM_001374689.1:c.427_430del	NP_001361618.1:n.427_430del
NM_001374690.1:c.427_430del	NP_001361619.1:n.427_430del
NM_001374691.1:c.427_430del	NP_001361620.1:n.427_430del
NM_001374692.1:c.427_430del	NP_001361621.1:n.427_430del
NM_001374693.1:c.427_430del	NP_001361622.1:n.427_430del
NM_001374695.1:c.427_430del	NP_001361624.1:n.427_430del
NM_007171.4:c.427_430del	NP_009102.4:n.427_430del
NR_148391.2:n.2463_2466del
NR_148392.2:n.2681_2684del
NR_148393.2:n.2778_2781del
NR_148394.2:n.2532_2535del
NR_148395.2:n.2930_2933del
NR_148396.2:n.2564_2567del
NR_148397.2:n.2689_2692del
NR_148398.2:n.2644_2647del
NR_148399.2:n.2994_2997del
NR_148400.2:n.2769_2772del