Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957964_87957965delinsGT , CM000672.2:g.87957964_87957965delinsGT	GRCh38
NC_000010.10:g.89717721_89717722delinsGT , CM000672.1:g.89717721_89717722delinsGT	GRCh37
NC_000010.9:g.89707701_89707702delinsGT	NCBI36
NG_007466.2:g.99526_99527delinsGT , LRG_311:g.99526_99527delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.746_747delinsGT	ENSP00000514759.2:p.Val249Gly
ENST00000710265.1:c.746_747delinsGT	ENSP00000518161.1:p.Val249Gly
ENST00000472832.3:c.746_747delinsGT	ENSP00000483066.2:p.Val249Gly
ENST00000688158.2:n.1481_1482delinsGT
ENST00000688922.2:c.576_577delinsGT	ENSP00000508742.2:n.576_577delinsGT
ENST00000700021.1:c.701_702delinsGT	ENSP00000514757.1:p.Val234Gly
ENST00000700022.1:c.85_86delinsGT	ENSP00000514758.1:n.85_86delinsGT
ENST00000700023.1:n.1904_1905delinsGT
ENST00000700024.1:n.2138_2139delinsGT
ENST00000700025.1:n.1515_1516delinsGT
ENST00000700026.1:n.383_384delinsGT
ENST00000700029.1:c.580_581delinsGT
ENST00000706954.1:c.746_747delinsGT	ENSP00000516674.1:p.Val249Gly
ENST00000706955.1:c.781_782delinsGT	ENSP00000516675.1:n.781_782delinsGT
ENST00000686459.1:c.332_333delinsGT	ENSP00000508909.1:n.332_333delinsGT
ENST00000688158.1:c.857_858delinsGT	ENSP00000509254.1:n.857_858delinsGT
ENST00000688308.1:c.746_747delinsGT	ENSP00000508752.1:p.Val249Gly
ENST00000688922.1:c.667_668delinsGT
ENST00000693560.1:c.1265_1266delinsGT	ENSP00000509861.1:p.Val422Gly
ENST00000371953.8:c.746_747delinsGT MANE Select	ENSP00000361021.3:p.Val249Gly
ENST00000371953.7:c.746_747delinsGT	ENSP00000361021.3:p.Val249Gly
ENST00000472832.2:c.173_174delinsGT	ENSP00000483066.1:p.Val58Gly
NM_000314.5:c.746_747delinsGT	NP_000305.3:p.Val249Gly
NM_000314.6:c.746_747delinsGT	NP_000305.3:p.Val249Gly
NM_001304717.2:c.1265_1266delinsGT	NP_001291646.2:p.Val422Gly
NM_001304718.1:c.155_156delinsGT	NP_001291647.1:p.Val52Gly
XM_006717926.2:c.701_702delinsGT	XP_006717989.1:p.Val234Gly
XM_011539981.1:c.746_747delinsGT	XP_011538283.1:p.Val249Gly
XM_011539982.1:c.650_651delinsGT	XP_011538284.1:p.Val217Gly
XR_945791.1:n.1316_1317delinsGT
NM_000314.7:c.746_747delinsGT	NP_000305.3:p.Val249Gly
NM_001304717.5:c.1265_1266delinsGT	NP_001291646.4:p.Val422Gly
NM_001304718.2:c.155_156delinsGT	NP_001291647.1:p.Val52Gly
NM_000314.8:c.746_747delinsGT MANE Select	NP_000305.3:p.Val249Gly