Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475107_47475109delinsAGC , CM000664.2:g.47475107_47475109delinsAGC	GRCh38
NC_000002.11:g.47702246_47702248delinsAGC , CM000664.1:g.47702246_47702248delinsAGC	GRCh37
NC_000002.10:g.47555750_47555752delinsAGC	NCBI36
NG_007110.2:g.76984_76986delinsAGC , LRG_218:g.76984_76986delinsAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1842_1844delinsAGC	ENSP00000495641.2:p.Gly614=
ENST00000233146.7:c.1842_1844delinsAGC MANE Select	ENSP00000233146.2:p.Gly614=
ENST00000543555.6:c.1644_1646delinsAGC	ENSP00000442697.1:p.Gly548=
ENST00000644092.1:c.142_144delinsAGC	ENSP00000496351.1:n.142_144delinsAGC
ENST00000645339.1:c.1842_1844delinsAGC	ENSP00000496441.1:p.Gly614=
ENST00000645506.1:c.1842_1844delinsAGC	ENSP00000495455.1:p.Gly614=
ENST00000646415.1:c.1842_1844delinsAGC	ENSP00000495543.1:p.Gly614=
ENST00000233146.6:c.1842_1844delinsAGC	ENSP00000233146.2:p.Gly614=
ENST00000406134.5:c.1842_1844delinsAGC	ENSP00000384199.1:p.Gly614=
ENST00000543555.5:c.1644_1646delinsAGC	ENSP00000442697.1:p.Gly548=
ENST00000610696.4:c.238_240delinsAGC	ENSP00000483159.1:n.238_240delinsAGC
ENST00000613514.4:c.382_384delinsAGC	ENSP00000484137.1:n.382_384delinsAGC
ENST00000617333.3:c.608_610delinsAGC	ENSP00000482468.1:n.608_610delinsAGC
ENST00000617938.4:c.814_816delinsAGC	ENSP00000481158.1:n.814_816delinsAGC
ENST00000621359.2:c.1842_1844delinsAGC	ENSP00000481416.1:p.Gly614=
NM_000251.2:c.1842_1844delinsAGC , LRG_218t1:c.1842_1844delinsAGC	NP_000242.1:p.Gly614=
NM_001258281.1:c.1644_1646delinsAGC	NP_001245210.1:p.Gly548=
XM_005264332.2:c.1842_1844delinsAGC	XP_005264389.2:p.Gly614=
XM_011532867.1:c.1842_1844delinsAGC	XP_011531169.1:p.Gly614=
XR_939685.1:n.1914_1916delinsAGC
XM_005264332.4:c.1842_1844delinsAGC	XP_005264389.2:p.Gly614=
XM_011532867.2:c.1842_1844delinsAGC	XP_011531169.1:p.Gly614=
XR_001738747.2:n.1904_1906delinsAGC
XR_939685.2:n.1904_1906delinsAGC
NM_000251.3:c.1842_1844delinsAGC MANE Select	NP_000242.1:p.Gly614=