Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478409_47478410delinsAT , CM000664.2:g.47478409_47478410delinsAT	GRCh38
NC_000002.11:g.47705548_47705549delinsAT , CM000664.1:g.47705548_47705549delinsAT	GRCh37
NC_000002.10:g.47559052_47559053delinsAT	NCBI36
NG_007110.2:g.80286_80287delinsAT , LRG_218:g.80286_80287delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2348_2349delinsAT	ENSP00000495641.2:p.His783=
ENST00000233146.7:c.2348_2349delinsAT MANE Select	ENSP00000233146.2:p.His783=
ENST00000543555.6:c.2150_2151delinsAT	ENSP00000442697.1:p.His717=
ENST00000644092.1:c.648_649delinsAT	ENSP00000496351.1:n.648_649delinsAT
ENST00000644900.1:c.201_202delinsAT
ENST00000645339.1:c.2348_2349delinsAT	ENSP00000496441.1:p.His783=
ENST00000645506.1:c.2348_2349delinsAT	ENSP00000495455.1:p.His783=
ENST00000646415.1:c.2348_2349delinsAT	ENSP00000495543.1:p.His783=
ENST00000233146.6:c.2348_2349delinsAT	ENSP00000233146.2:p.His783=
ENST00000406134.5:c.2348_2349delinsAT	ENSP00000384199.1:p.His783=
ENST00000543555.5:c.2150_2151delinsAT	ENSP00000442697.1:p.His717=
ENST00000610696.4:c.744_745delinsAT	ENSP00000483159.1:n.744_745delinsAT
ENST00000613514.4:c.888_889delinsAT	ENSP00000484137.1:n.888_889delinsAT
ENST00000617333.3:c.1114_1115delinsAT	ENSP00000482468.1:n.1114_1115delinsAT
ENST00000617938.4:c.1320_1321delinsAT	ENSP00000481158.1:n.1320_1321delinsAT
ENST00000621359.2:c.2347_2348delinsAT	ENSP00000481416.1:p.Ile783=
NM_000251.2:c.2348_2349delinsAT , LRG_218t1:c.2348_2349delinsAT	NP_000242.1:p.His783=
NM_001258281.1:c.2150_2151delinsAT	NP_001245210.1:p.His717=
XM_005264332.2:c.2348_2349delinsAT	XP_005264389.2:p.His783=
XM_011532867.1:c.2348_2349delinsAT	XP_011531169.1:p.His783=
XR_939685.1:n.2420_2421delinsAT
XM_005264332.4:c.2348_2349delinsAT	XP_005264389.2:p.His783=
XM_011532867.2:c.2348_2349delinsAT	XP_011531169.1:p.His783=
XR_001738747.2:n.2410_2411delinsAT
XR_939685.2:n.2410_2411delinsAT
NM_000251.3:c.2348_2349delinsAT MANE Select	NP_000242.1:p.His783=