Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523561_131523562del , CM000671.2:g.131523561_131523562del	GRCh38
NC_000009.11:g.134398948_134398949del , CM000671.1:g.134398948_134398949del	GRCh37
NC_000009.10:g.133388769_133388770del	NCBI36
NG_008896.1:g.25660_25661del
NG_008896.2:g.25660_25661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.455_456del	ENSP00000343034.7:n.455_456del
ENST00000404875.7:n.3173_3174del
ENST00000677295.2:c.2977_2978del	ENSP00000504346.2:n.2977_2978del
ENST00000678264.2:c.2816_2817del	ENSP00000503157.2:n.2816_2817del
ENST00000682070.1:n.2943_2944del
ENST00000682639.1:c.338_339del
ENST00000682813.1:n.3030_3031del
ENST00000683231.1:c.483_484del
ENST00000683392.1:n.5225_5226del
ENST00000683900.1:n.4533_4534del
ENST00000684062.1:n.3299_3300del
ENST00000684399.1:c.448_449del
ENST00000684579.1:n.4479_4480del
ENST00000341012.12:c.455_456del	ENSP00000343034.7:n.455_456del
ENST00000372228.9:c.455_456del	ENSP00000361302.3:n.455_456del
ENST00000402686.8:c.455_456del MANE Select	ENSP00000385797.4:n.455_456del
ENST00000676640.1:c.455_456del	ENSP00000503281.1:n.455_456del
ENST00000676803.1:c.455_456del	ENSP00000503093.1:n.455_456del
ENST00000676835.1:c.1848_1849del	ENSP00000502911.1:n.1848_1849del
ENST00000677295.1:c.1855_1856del	ENSP00000504346.1:n.1855_1856del
ENST00000677444.1:c.2578_2579del
ENST00000677626.1:c.455_456del	ENSP00000503552.1:n.455_456del
ENST00000677853.1:c.1641_1642del	ENSP00000503488.1:n.1641_1642del
ENST00000678546.1:c.2578_2579del	ENSP00000503062.1:n.2578_2579del
ENST00000678548.1:c.2772_2773del	ENSP00000503934.1:n.2772_2773del
ENST00000678626.1:n.2469_2470del
ENST00000678739.1:c.2799_2800del	ENSP00000503806.1:n.2799_2800del
ENST00000678833.1:c.2385_2386del	ENSP00000503893.1:n.2385_2386del
ENST00000679023.1:c.279_280del	ENSP00000503718.1:n.279_280del
ENST00000679076.1:c.2252_2253del
ENST00000679111.1:c.1389_1390del	ENSP00000504257.1:n.1389_1390del
ENST00000341012.11:c.455_456del	ENSP00000343034.7:n.455_456del
ENST00000372220.4:c.1496_1497del	ENSP00000361294.4:n.1496_1497del
ENST00000372228.7:c.455_456del	ENSP00000361302.3:n.455_456del
ENST00000402686.7:c.455_456del	ENSP00000385797.3:n.455_456del
ENST00000404875.6:c.455_456del	ENSP00000384531.2:n.455_456del
ENST00000423007.5:c.455_456del	ENSP00000404119.1:n.455_456del
ENST00000485278.5:n.3183_3184del
NM_001077365.1:c.455_456del	NP_001070833.1:n.455_456del
NM_001077366.1:c.455_456del	NP_001070834.1:n.455_456del
NM_001136113.1:c.455_456del	NP_001129585.1:n.455_456del
NM_001136114.1:c.455_456del	NP_001129586.1:n.455_456del
NM_007171.3:c.455_456del	NP_009102.3:n.455_456del
XM_005272156.1:c.455_456del	XP_005272213.1:n.455_456del
XM_005272158.1:c.455_456del	XP_005272215.1:n.455_456del
XM_005272159.1:c.455_456del	XP_005272216.1:n.455_456del
XM_005272162.1:c.455_456del	XP_005272219.1:n.455_456del
XM_006716932.1:c.455_456del	XP_006716995.1:n.455_456del
XM_011518140.1:c.455_456del	XP_011516442.1:n.455_456del
XM_011518141.1:c.455_456del	XP_011516443.1:n.455_456del
XM_011518142.1:c.455_456del	XP_011516444.1:n.455_456del
XM_011518143.1:c.455_456del	XP_011516445.1:n.455_456del
XM_011518145.1:c.455_456del	XP_011516447.1:n.455_456del
XM_011518147.1:c.455_456del	XP_011516449.1:n.455_456del
XR_929703.1:n.2699_2700del
NM_001353193.1:c.455_456del	NP_001340122.1:n.455_456del
NM_001353194.1:c.455_456del	NP_001340123.1:n.455_456del
NM_001353195.1:c.455_456del	NP_001340124.1:n.455_456del
NM_001353196.1:c.455_456del	NP_001340125.1:n.455_456del
NM_001353197.1:c.455_456del	NP_001340126.1:n.455_456del
NM_001353198.1:c.455_456del	NP_001340127.1:n.455_456del
NM_001353199.1:c.455_456del	NP_001340128.1:n.455_456del
NM_001353200.1:c.455_456del	NP_001340129.1:n.455_456del
NR_148391.1:n.2507_2508del
NR_148392.1:n.2725_2726del
NR_148393.1:n.2822_2823del
NR_148394.1:n.2576_2577del
NR_148395.1:n.2974_2975del
NR_148396.1:n.2608_2609del
NR_148397.1:n.2733_2734del
NR_148398.1:n.2688_2689del
NR_148399.1:n.3038_3039del
NR_148400.1:n.2813_2814del
XM_005272162.3:c.455_456del	XP_005272219.1:n.455_456del
XM_006716932.2:c.455_456del	XP_006716995.1:n.455_456del
XM_011518140.2:c.455_456del	XP_011516442.1:n.455_456del
XM_011518141.2:c.455_456del	XP_011516443.1:n.455_456del
XM_011518142.2:c.455_456del	XP_011516444.1:n.455_456del
XM_011518143.2:c.455_456del	XP_011516445.1:n.455_456del
XM_011518145.2:c.455_456del	XP_011516447.1:n.455_456del
XM_017014205.2:c.455_456del	XP_016869694.1:n.455_456del
XM_024447380.1:c.455_456del	XP_024303148.1:n.455_456del
XM_024447381.1:c.455_456del	XP_024303149.1:n.455_456del
XM_024447382.1:c.455_456del	XP_024303150.1:n.455_456del
XR_001746160.2:n.2627_2628del
XR_001746162.2:n.3008_3009del
XR_001746164.1:n.2725_2726del
XR_001746166.2:n.2844_2845del
NM_001077365.2:c.455_456del MANE Select	NP_001070833.1:n.455_456del
NM_001077366.2:c.455_456del	NP_001070834.1:n.455_456del
NM_001136113.2:c.455_456del	NP_001129585.1:n.455_456del
NM_001136114.2:c.455_456del	NP_001129586.1:n.455_456del
NM_001353193.2:c.455_456del	NP_001340122.2:n.455_456del
NM_001353194.2:c.455_456del	NP_001340123.1:n.455_456del
NM_001353195.2:c.455_456del	NP_001340124.1:n.455_456del
NM_001353196.2:c.455_456del	NP_001340125.1:n.455_456del
NM_001353197.2:c.455_456del	NP_001340126.2:n.455_456del
NM_001353198.2:c.455_456del	NP_001340127.2:n.455_456del
NM_001353199.2:c.455_456del	NP_001340128.2:n.455_456del
NM_001353200.2:c.455_456del	NP_001340129.1:n.455_456del
NM_001374689.1:c.455_456del	NP_001361618.1:n.455_456del
NM_001374690.1:c.455_456del	NP_001361619.1:n.455_456del
NM_001374691.1:c.455_456del	NP_001361620.1:n.455_456del
NM_001374692.1:c.455_456del	NP_001361621.1:n.455_456del
NM_001374693.1:c.455_456del	NP_001361622.1:n.455_456del
NM_001374695.1:c.455_456del	NP_001361624.1:n.455_456del
NM_007171.4:c.455_456del	NP_009102.4:n.455_456del
NR_148391.2:n.2491_2492del
NR_148392.2:n.2709_2710del
NR_148393.2:n.2806_2807del
NR_148394.2:n.2560_2561del
NR_148395.2:n.2958_2959del
NR_148396.2:n.2592_2593del
NR_148397.2:n.2717_2718del
NR_148398.2:n.2672_2673del
NR_148399.2:n.3022_3023del
NR_148400.2:n.2797_2798del

HGVS	Amino-acid Change
ENST00000341012.13:c.455_456del	ENSP00000343034.7:n.455_456del
ENST00000404875.7:n.3173_3174del
ENST00000677295.2:c.2977_2978del	ENSP00000504346.2:n.2977_2978del
ENST00000678264.2:c.2816_2817del	ENSP00000503157.2:n.2816_2817del
ENST00000682070.1:n.2943_2944del
ENST00000682639.1:c.338_339del
ENST00000682813.1:n.3030_3031del
ENST00000683231.1:c.483_484del
ENST00000683392.1:n.5225_5226del
ENST00000683900.1:n.4533_4534del
ENST00000684062.1:n.3299_3300del
ENST00000684399.1:c.448_449del
ENST00000684579.1:n.4479_4480del
ENST00000341012.12:c.455_456del	ENSP00000343034.7:n.455_456del
ENST00000372228.9:c.455_456del	ENSP00000361302.3:n.455_456del
ENST00000402686.8:c.455_456del MANE Select	ENSP00000385797.4:n.455_456del
ENST00000676640.1:c.455_456del	ENSP00000503281.1:n.455_456del
ENST00000676803.1:c.455_456del	ENSP00000503093.1:n.455_456del
ENST00000676835.1:c.1848_1849del	ENSP00000502911.1:n.1848_1849del
ENST00000677295.1:c.1855_1856del	ENSP00000504346.1:n.1855_1856del
ENST00000677444.1:c.2578_2579del
ENST00000677626.1:c.455_456del	ENSP00000503552.1:n.455_456del
ENST00000677853.1:c.1641_1642del	ENSP00000503488.1:n.1641_1642del
ENST00000678546.1:c.2578_2579del	ENSP00000503062.1:n.2578_2579del
ENST00000678548.1:c.2772_2773del	ENSP00000503934.1:n.2772_2773del
ENST00000678626.1:n.2469_2470del
ENST00000678739.1:c.2799_2800del	ENSP00000503806.1:n.2799_2800del
ENST00000678833.1:c.2385_2386del	ENSP00000503893.1:n.2385_2386del
ENST00000679023.1:c.279_280del	ENSP00000503718.1:n.279_280del
ENST00000679076.1:c.2252_2253del
ENST00000679111.1:c.1389_1390del	ENSP00000504257.1:n.1389_1390del
ENST00000341012.11:c.455_456del	ENSP00000343034.7:n.455_456del
ENST00000372220.4:c.1496_1497del	ENSP00000361294.4:n.1496_1497del
ENST00000372228.7:c.455_456del	ENSP00000361302.3:n.455_456del
ENST00000402686.7:c.455_456del	ENSP00000385797.3:n.455_456del
ENST00000404875.6:c.455_456del	ENSP00000384531.2:n.455_456del
ENST00000423007.5:c.455_456del	ENSP00000404119.1:n.455_456del
ENST00000485278.5:n.3183_3184del
NM_001077365.1:c.455_456del	NP_001070833.1:n.455_456del
NM_001077366.1:c.455_456del	NP_001070834.1:n.455_456del
NM_001136113.1:c.455_456del	NP_001129585.1:n.455_456del
NM_001136114.1:c.455_456del	NP_001129586.1:n.455_456del
NM_007171.3:c.455_456del	NP_009102.3:n.455_456del
XM_005272156.1:c.455_456del	XP_005272213.1:n.455_456del
XM_005272158.1:c.455_456del	XP_005272215.1:n.455_456del
XM_005272159.1:c.455_456del	XP_005272216.1:n.455_456del
XM_005272162.1:c.455_456del	XP_005272219.1:n.455_456del
XM_006716932.1:c.455_456del	XP_006716995.1:n.455_456del
XM_011518140.1:c.455_456del	XP_011516442.1:n.455_456del
XM_011518141.1:c.455_456del	XP_011516443.1:n.455_456del
XM_011518142.1:c.455_456del	XP_011516444.1:n.455_456del
XM_011518143.1:c.455_456del	XP_011516445.1:n.455_456del
XM_011518145.1:c.455_456del	XP_011516447.1:n.455_456del
XM_011518147.1:c.455_456del	XP_011516449.1:n.455_456del
XR_929703.1:n.2699_2700del
NM_001353193.1:c.455_456del	NP_001340122.1:n.455_456del
NM_001353194.1:c.455_456del	NP_001340123.1:n.455_456del
NM_001353195.1:c.455_456del	NP_001340124.1:n.455_456del
NM_001353196.1:c.455_456del	NP_001340125.1:n.455_456del
NM_001353197.1:c.455_456del	NP_001340126.1:n.455_456del
NM_001353198.1:c.455_456del	NP_001340127.1:n.455_456del
NM_001353199.1:c.455_456del	NP_001340128.1:n.455_456del
NM_001353200.1:c.455_456del	NP_001340129.1:n.455_456del
NR_148391.1:n.2507_2508del
NR_148392.1:n.2725_2726del
NR_148393.1:n.2822_2823del
NR_148394.1:n.2576_2577del
NR_148395.1:n.2974_2975del
NR_148396.1:n.2608_2609del
NR_148397.1:n.2733_2734del
NR_148398.1:n.2688_2689del
NR_148399.1:n.3038_3039del
NR_148400.1:n.2813_2814del
XM_005272162.3:c.455_456del	XP_005272219.1:n.455_456del
XM_006716932.2:c.455_456del	XP_006716995.1:n.455_456del
XM_011518140.2:c.455_456del	XP_011516442.1:n.455_456del
XM_011518141.2:c.455_456del	XP_011516443.1:n.455_456del
XM_011518142.2:c.455_456del	XP_011516444.1:n.455_456del
XM_011518143.2:c.455_456del	XP_011516445.1:n.455_456del
XM_011518145.2:c.455_456del	XP_011516447.1:n.455_456del
XM_017014205.2:c.455_456del	XP_016869694.1:n.455_456del
XM_024447380.1:c.455_456del	XP_024303148.1:n.455_456del
XM_024447381.1:c.455_456del	XP_024303149.1:n.455_456del
XM_024447382.1:c.455_456del	XP_024303150.1:n.455_456del
XR_001746160.2:n.2627_2628del
XR_001746162.2:n.3008_3009del
XR_001746164.1:n.2725_2726del
XR_001746166.2:n.2844_2845del
NM_001077365.2:c.455_456del MANE Select	NP_001070833.1:n.455_456del
NM_001077366.2:c.455_456del	NP_001070834.1:n.455_456del
NM_001136113.2:c.455_456del	NP_001129585.1:n.455_456del
NM_001136114.2:c.455_456del	NP_001129586.1:n.455_456del
NM_001353193.2:c.455_456del	NP_001340122.2:n.455_456del
NM_001353194.2:c.455_456del	NP_001340123.1:n.455_456del
NM_001353195.2:c.455_456del	NP_001340124.1:n.455_456del
NM_001353196.2:c.455_456del	NP_001340125.1:n.455_456del
NM_001353197.2:c.455_456del	NP_001340126.2:n.455_456del
NM_001353198.2:c.455_456del	NP_001340127.2:n.455_456del
NM_001353199.2:c.455_456del	NP_001340128.2:n.455_456del
NM_001353200.2:c.455_456del	NP_001340129.1:n.455_456del
NM_001374689.1:c.455_456del	NP_001361618.1:n.455_456del
NM_001374690.1:c.455_456del	NP_001361619.1:n.455_456del
NM_001374691.1:c.455_456del	NP_001361620.1:n.455_456del
NM_001374692.1:c.455_456del	NP_001361621.1:n.455_456del
NM_001374693.1:c.455_456del	NP_001361622.1:n.455_456del
NM_001374695.1:c.455_456del	NP_001361624.1:n.455_456del
NM_007171.4:c.455_456del	NP_009102.4:n.455_456del
NR_148391.2:n.2491_2492del
NR_148392.2:n.2709_2710del
NR_148393.2:n.2806_2807del
NR_148394.2:n.2560_2561del
NR_148395.2:n.2958_2959del
NR_148396.2:n.2592_2593del
NR_148397.2:n.2717_2718del
NR_148398.2:n.2672_2673del
NR_148399.2:n.3022_3023del
NR_148400.2:n.2797_2798del

Linked Data

Genomic Alleles

Transcript Alleles