Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475249_47475251delinsCAG , CM000664.2:g.47475249_47475251delinsCAG	GRCh38
NC_000002.11:g.47702388_47702390delinsCAG , CM000664.1:g.47702388_47702390delinsCAG	GRCh37
NC_000002.10:g.47555892_47555894delinsCAG	NCBI36
NG_007110.2:g.77126_77128delinsCAG , LRG_218:g.77126_77128delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1984_1986delinsCAG	ENSP00000495641.2:p.Gln662=
ENST00000233146.7:c.1984_1986delinsCAG MANE Select	ENSP00000233146.2:p.Gln662=
ENST00000543555.6:c.1786_1788delinsCAG	ENSP00000442697.1:p.Gln596=
ENST00000644092.1:c.284_286delinsCAG	ENSP00000496351.1:n.284_286delinsCAG
ENST00000645339.1:c.1984_1986delinsCAG	ENSP00000496441.1:p.Gln662=
ENST00000645506.1:c.1984_1986delinsCAG	ENSP00000495455.1:p.Gln662=
ENST00000646415.1:c.1984_1986delinsCAG	ENSP00000495543.1:p.Gln662=
ENST00000233146.6:c.1984_1986delinsCAG	ENSP00000233146.2:p.Gln662=
ENST00000406134.5:c.1984_1986delinsCAG	ENSP00000384199.1:p.Gln662=
ENST00000543555.5:c.1786_1788delinsCAG	ENSP00000442697.1:p.Gln596=
ENST00000610696.4:c.380_382delinsCAG	ENSP00000483159.1:n.380_382delinsCAG
ENST00000613514.4:c.524_526delinsCAG	ENSP00000484137.1:n.524_526delinsCAG
ENST00000617333.3:c.750_752delinsCAG	ENSP00000482468.1:n.750_752delinsCAG
ENST00000617938.4:c.956_958delinsCAG	ENSP00000481158.1:n.956_958delinsCAG
ENST00000621359.2:c.1984_1986delinsCAG	ENSP00000481416.1:p.Gln662=
NM_000251.2:c.1984_1986delinsCAG , LRG_218t1:c.1984_1986delinsCAG	NP_000242.1:p.Gln662=
NM_001258281.1:c.1786_1788delinsCAG	NP_001245210.1:p.Gln596=
XM_005264332.2:c.1984_1986delinsCAG	XP_005264389.2:p.Gln662=
XM_011532867.1:c.1984_1986delinsCAG	XP_011531169.1:p.Gln662=
XR_939685.1:n.2056_2058delinsCAG
XM_005264332.4:c.1984_1986delinsCAG	XP_005264389.2:p.Gln662=
XM_011532867.2:c.1984_1986delinsCAG	XP_011531169.1:p.Gln662=
XR_001738747.2:n.2046_2048delinsCAG
XR_939685.2:n.2046_2048delinsCAG
NM_000251.3:c.1984_1986delinsCAG MANE Select	NP_000242.1:p.Gln662=