Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480715_47480716delinsTG , CM000664.2:g.47480715_47480716delinsTG	GRCh38
NC_000002.11:g.47707854_47707855delinsTG , CM000664.1:g.47707854_47707855delinsTG	GRCh37
NC_000002.10:g.47561358_47561359delinsTG	NCBI36
NG_007110.2:g.82592_82593delinsTG , LRG_218:g.82592_82593delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2478_2479delinsTG	ENSP00000495641.2:p.Phe826=
ENST00000233146.7:c.2478_2479delinsTG MANE Select	ENSP00000233146.2:p.Phe826=
ENST00000543555.6:c.2280_2281delinsTG	ENSP00000442697.1:p.Phe760=
ENST00000644092.1:c.778_779delinsTG	ENSP00000496351.1:n.778_779delinsTG
ENST00000644900.1:c.331_332delinsTG
ENST00000645339.1:c.2478_2479delinsTG	ENSP00000496441.1:p.Phe826=
ENST00000645506.1:c.2478_2479delinsTG	ENSP00000495455.1:p.Phe826=
ENST00000646415.1:c.2478_2479delinsTG	ENSP00000495543.1:p.Phe826=
ENST00000233146.6:c.2478_2479delinsTG	ENSP00000233146.2:p.Phe826=
ENST00000406134.5:c.2478_2479delinsTG	ENSP00000384199.1:p.Phe826=
ENST00000543555.5:c.2280_2281delinsTG	ENSP00000442697.1:p.Phe760=
ENST00000610696.4:c.874_875delinsTG	ENSP00000483159.1:n.874_875delinsTG
ENST00000613514.4:c.1018_1019delinsTG	ENSP00000484137.1:n.1018_1019delinsTG
ENST00000617333.3:c.1244_1245delinsTG	ENSP00000482468.1:n.1244_1245delinsTG
ENST00000617938.4:c.1450_1451delinsTG	ENSP00000481158.1:n.1450_1451delinsTG
ENST00000621359.2:c.44_45delinsTG	ENSP00000481416.1:n.44_45delinsTG
NM_000251.2:c.2478_2479delinsTG , LRG_218t1:c.2478_2479delinsTG	NP_000242.1:p.Phe826=
NM_001258281.1:c.2280_2281delinsTG	NP_001245210.1:p.Phe760=
XM_005264332.2:c.2478_2479delinsTG	XP_005264389.2:p.Phe826=
XM_011532867.1:c.2478_2479delinsTG	XP_011531169.1:p.Phe826=
XR_939685.1:n.2550_2551delinsTG
XM_005264332.4:c.2478_2479delinsTG	XP_005264389.2:p.Phe826=
XM_011532867.2:c.2478_2479delinsTG	XP_011531169.1:p.Phe826=
XR_001738747.2:n.2540_2541delinsTG
XR_939685.2:n.2540_2541delinsTG
NM_000251.3:c.2478_2479delinsTG MANE Select	NP_000242.1:p.Phe826=