Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958011_87958013delinsGGT , CM000672.2:g.87958011_87958013delinsGGT	GRCh38
NC_000010.10:g.89717768_89717770delinsGGT , CM000672.1:g.89717768_89717770delinsGGT	GRCh37
NC_000010.9:g.89707748_89707750delinsGGT	NCBI36
NG_007466.2:g.99573_99575delinsGGT , LRG_311:g.99573_99575delinsGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.793_795delinsGGT	ENSP00000514759.2:p.Leu265Gly
ENST00000710265.1:c.793_795delinsGGT	ENSP00000518161.1:p.Leu265Gly
ENST00000472832.3:c.793_795delinsGGT	ENSP00000483066.2:p.Leu265Gly
ENST00000688158.2:n.1528_1530delinsGGT
ENST00000688922.2:c.623_625delinsGGT	ENSP00000508742.2:n.623_625delinsGGT
ENST00000700021.1:c.748_750delinsGGT	ENSP00000514757.1:p.Leu250Gly
ENST00000700022.1:c.132_134delinsGGT	ENSP00000514758.1:n.132_134delinsGGT
ENST00000700023.1:n.1951_1953delinsGGT
ENST00000700024.1:n.2185_2187delinsGGT
ENST00000700025.1:n.1562_1564delinsGGT
ENST00000700026.1:n.430_432delinsGGT
ENST00000700029.1:c.627_629delinsGGT
ENST00000706954.1:c.793_795delinsGGT	ENSP00000516674.1:p.Leu265Gly
ENST00000706955.1:c.828_830delinsGGT	ENSP00000516675.1:n.828_830delinsGGT
ENST00000686459.1:c.379_381delinsGGT	ENSP00000508909.1:n.379_381delinsGGT
ENST00000688158.1:c.904_906delinsGGT	ENSP00000509254.1:n.904_906delinsGGT
ENST00000688308.1:c.793_795delinsGGT	ENSP00000508752.1:p.Leu265Gly
ENST00000688922.1:c.714_716delinsGGT
ENST00000693560.1:c.1312_1314delinsGGT	ENSP00000509861.1:p.Leu438Gly
ENST00000371953.8:c.793_795delinsGGT MANE Select	ENSP00000361021.3:p.Leu265Gly
ENST00000371953.7:c.793_795delinsGGT	ENSP00000361021.3:p.Leu265Gly
ENST00000472832.2:c.220_222delinsGGT	ENSP00000483066.1:p.Leu74Gly
NM_000314.5:c.793_795delinsGGT	NP_000305.3:p.Leu265Gly
NM_000314.6:c.793_795delinsGGT	NP_000305.3:p.Leu265Gly
NM_001304717.2:c.1312_1314delinsGGT	NP_001291646.2:p.Leu438Gly
NM_001304718.1:c.202_204delinsGGT	NP_001291647.1:p.Leu68Gly
XM_006717926.2:c.748_750delinsGGT	XP_006717989.1:p.Leu250Gly
XM_011539981.1:c.793_795delinsGGT	XP_011538283.1:p.Leu265Gly
XM_011539982.1:c.697_699delinsGGT	XP_011538284.1:p.Leu233Gly
XR_945791.1:n.1363_1365delinsGGT
NM_000314.7:c.793_795delinsGGT	NP_000305.3:p.Leu265Gly
NM_001304717.5:c.1312_1314delinsGGT	NP_001291646.4:p.Leu438Gly
NM_001304718.2:c.202_204delinsGGT	NP_001291647.1:p.Leu68Gly
NM_000314.8:c.793_795delinsGGT MANE Select	NP_000305.3:p.Leu265Gly