Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478388_47478389delinsCT , CM000664.2:g.47478388_47478389delinsCT	GRCh38
NC_000002.11:g.47705527_47705528delinsCT , CM000664.1:g.47705527_47705528delinsCT	GRCh37
NC_000002.10:g.47559031_47559032delinsCT	NCBI36
NG_007110.2:g.80265_80266delinsCT , LRG_218:g.80265_80266delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2327_2328delinsCT	ENSP00000495641.2:p.Ala776=
ENST00000233146.7:c.2327_2328delinsCT MANE Select	ENSP00000233146.2:p.Ala776=
ENST00000543555.6:c.2129_2130delinsCT	ENSP00000442697.1:p.Ala710=
ENST00000644092.1:c.627_628delinsCT	ENSP00000496351.1:n.627_628delinsCT
ENST00000644900.1:c.180_181delinsCT
ENST00000645339.1:c.2327_2328delinsCT	ENSP00000496441.1:p.Ala776=
ENST00000645506.1:c.2327_2328delinsCT	ENSP00000495455.1:p.Ala776=
ENST00000646415.1:c.2327_2328delinsCT	ENSP00000495543.1:p.Ala776=
ENST00000233146.6:c.2327_2328delinsCT	ENSP00000233146.2:p.Ala776=
ENST00000406134.5:c.2327_2328delinsCT	ENSP00000384199.1:p.Ala776=
ENST00000543555.5:c.2129_2130delinsCT	ENSP00000442697.1:p.Ala710=
ENST00000610696.4:c.723_724delinsCT	ENSP00000483159.1:n.723_724delinsCT
ENST00000613514.4:c.867_868delinsCT	ENSP00000484137.1:n.867_868delinsCT
ENST00000617333.3:c.1093_1094delinsCT	ENSP00000482468.1:n.1093_1094delinsCT
ENST00000617938.4:c.1299_1300delinsCT	ENSP00000481158.1:n.1299_1300delinsCT
ENST00000621359.2:c.2327_2328delinsCT	ENSP00000481416.1:p.Ala776=
NM_000251.2:c.2327_2328delinsCT , LRG_218t1:c.2327_2328delinsCT	NP_000242.1:p.Ala776=
NM_001258281.1:c.2129_2130delinsCT	NP_001245210.1:p.Ala710=
XM_005264332.2:c.2327_2328delinsCT	XP_005264389.2:p.Ala776=
XM_011532867.1:c.2327_2328delinsCT	XP_011531169.1:p.Ala776=
XR_939685.1:n.2399_2400delinsCT
XM_005264332.4:c.2327_2328delinsCT	XP_005264389.2:p.Ala776=
XM_011532867.2:c.2327_2328delinsCT	XP_011531169.1:p.Ala776=
XR_001738747.2:n.2389_2390delinsCT
XR_939685.2:n.2389_2390delinsCT
NM_000251.3:c.2327_2328delinsCT MANE Select	NP_000242.1:p.Ala776=