Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87933147_87933149delinsGGT , CM000672.2:g.87933147_87933149delinsGGT	GRCh38
NC_000010.10:g.89692904_89692906delinsGGT , CM000672.1:g.89692904_89692906delinsGGT	GRCh37
NC_000010.9:g.89682884_89682886delinsGGT	NCBI36
NG_007466.2:g.74709_74711delinsGGT , LRG_311:g.74709_74711delinsGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.388_390delinsGGT	ENSP00000514759.2:p.Arg130Gly
ENST00000710265.1:c.388_390delinsGGT	ENSP00000518161.1:p.Arg130Gly
ENST00000472832.3:c.388_390delinsGGT	ENSP00000483066.2:p.Arg130Gly
ENST00000688158.2:n.1123_1125delinsGGT
ENST00000688922.2:c.218_220delinsGGT	ENSP00000508742.2:n.218_220delinsGGT
ENST00000700021.1:c.343_345delinsGGT	ENSP00000514757.1:p.Arg115Gly
ENST00000700022.1:c.388_390delinsGGT	ENSP00000514758.1:p.Arg130Gly
ENST00000700029.1:c.222_224delinsGGT
ENST00000706954.1:c.388_390delinsGGT	ENSP00000516674.1:p.Arg130Gly
ENST00000706955.1:c.423_425delinsGGT	ENSP00000516675.1:n.423_425delinsGGT
ENST00000686459.1:c.388_390delinsGGT	ENSP00000508909.1:p.Arg130Gly
ENST00000688158.1:c.499_501delinsGGT	ENSP00000509254.1:n.499_501delinsGGT
ENST00000688308.1:c.388_390delinsGGT	ENSP00000508752.1:p.Arg130Gly
ENST00000688922.1:c.309_311delinsGGT
ENST00000693560.1:c.907_909delinsGGT	ENSP00000509861.1:p.Arg303Gly
ENST00000371953.8:c.388_390delinsGGT MANE Select	ENSP00000361021.3:p.Arg130Gly
ENST00000371953.7:c.388_390delinsGGT	ENSP00000361021.3:p.Arg130Gly
ENST00000498703.1:n.214_216delinsGGT
ENST00000610634.1:c.286_288delinsGGT	ENSP00000477517.1:p.Arg96Gly
NM_000314.5:c.388_390delinsGGT	NP_000305.3:p.Arg130Gly
NM_000314.6:c.388_390delinsGGT	NP_000305.3:p.Arg130Gly
NM_001304717.2:c.907_909delinsGGT	NP_001291646.2:p.Arg303Gly
NM_001304718.1:c.-363_-361delinsGGT	NP_001291647.1:n.-363_-361delinsGGT
XM_006717926.2:c.343_345delinsGGT	XP_006717989.1:p.Arg115Gly
XM_011539981.1:c.388_390delinsGGT	XP_011538283.1:p.Arg130Gly
XM_011539982.1:c.292_294delinsGGT	XP_011538284.1:p.Arg98Gly
XR_945789.1:n.1100_1102delinsGGT
XR_945790.1:n.1100_1102delinsGGT
XR_945791.1:n.1100_1102delinsGGT
NM_000314.7:c.388_390delinsGGT	NP_000305.3:p.Arg130Gly
NM_001304717.5:c.907_909delinsGGT	NP_001291646.4:p.Arg303Gly
NM_001304718.2:c.-363_-361delinsGGT	NP_001291647.1:n.-363_-361delinsGGT
NM_000314.8:c.388_390delinsGGT MANE Select	NP_000305.3:p.Arg130Gly