Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957970_87957972del , CM000672.2:g.87957970_87957972del	GRCh38
NC_000010.10:g.89717727_89717729del , CM000672.1:g.89717727_89717729del	GRCh37
NC_000010.9:g.89707707_89707709del	NCBI36
NG_007466.2:g.99532_99534del , LRG_311:g.99532_99534del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.752_754del	ENSP00000514759.2:p.Gly251del
ENST00000710265.1:c.752_754del	ENSP00000518161.1:p.Gly251del
ENST00000472832.3:c.752_754del	ENSP00000483066.2:p.Gly251del
ENST00000688158.2:n.1487_1489del
ENST00000688922.2:c.582_584del	ENSP00000508742.2:n.582_584del
ENST00000700021.1:c.707_709del	ENSP00000514757.1:p.Gly236del
ENST00000700022.1:c.91_93del	ENSP00000514758.1:n.91_93del
ENST00000700023.1:n.1910_1912del
ENST00000700024.1:n.2144_2146del
ENST00000700025.1:n.1521_1523del
ENST00000700026.1:n.389_391del
ENST00000700029.1:c.586_588del
ENST00000706954.1:c.752_754del	ENSP00000516674.1:p.Gly251del
ENST00000706955.1:c.787_789del	ENSP00000516675.1:n.787_789del
ENST00000686459.1:c.338_340del	ENSP00000508909.1:n.338_340del
ENST00000688158.1:c.863_865del	ENSP00000509254.1:n.863_865del
ENST00000688308.1:c.752_754del	ENSP00000508752.1:p.Gly251del
ENST00000688922.1:c.673_675del
ENST00000693560.1:c.1271_1273del	ENSP00000509861.1:p.Gly424del
ENST00000371953.8:c.752_754del MANE Select	ENSP00000361021.3:p.Gly251del
ENST00000371953.7:c.752_754del	ENSP00000361021.3:p.Gly251del
ENST00000472832.2:c.179_181del	ENSP00000483066.1:p.Gly60del
NM_000314.5:c.752_754del	NP_000305.3:p.Gly251del
NM_000314.6:c.752_754del	NP_000305.3:p.Gly251del
NM_001304717.2:c.1271_1273del	NP_001291646.2:p.Gly424del
NM_001304718.1:c.161_163del	NP_001291647.1:p.Gly54del
XM_006717926.2:c.707_709del	XP_006717989.1:p.Gly236del
XM_011539981.1:c.752_754del	XP_011538283.1:p.Gly251del
XM_011539982.1:c.656_658del	XP_011538284.1:p.Gly219del
XR_945791.1:n.1322_1324del
NM_000314.7:c.752_754del	NP_000305.3:p.Gly251del
NM_001304717.5:c.1271_1273del	NP_001291646.4:p.Gly424del
NM_001304718.2:c.161_163del	NP_001291647.1:p.Gly54del
NM_000314.8:c.752_754del MANE Select	NP_000305.3:p.Gly251del