Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478448_47478449delinsCT , CM000664.2:g.47478448_47478449delinsCT	GRCh38
NC_000002.11:g.47705587_47705588delinsCT , CM000664.1:g.47705587_47705588delinsCT	GRCh37
NC_000002.10:g.47559091_47559092delinsCT	NCBI36
NG_007110.2:g.80325_80326delinsCT , LRG_218:g.80325_80326delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2387_2388delinsCT	ENSP00000495641.2:p.Thr796=
ENST00000233146.7:c.2387_2388delinsCT MANE Select	ENSP00000233146.2:p.Thr796=
ENST00000543555.6:c.2189_2190delinsCT	ENSP00000442697.1:p.Thr730=
ENST00000644092.1:c.687_688delinsCT	ENSP00000496351.1:n.687_688delinsCT
ENST00000644900.1:c.240_241delinsCT
ENST00000645339.1:c.2387_2388delinsCT	ENSP00000496441.1:p.Thr796=
ENST00000645506.1:c.2387_2388delinsCT	ENSP00000495455.1:p.Thr796=
ENST00000646415.1:c.2387_2388delinsCT	ENSP00000495543.1:p.Thr796=
ENST00000233146.6:c.2387_2388delinsCT	ENSP00000233146.2:p.Thr796=
ENST00000406134.5:c.2387_2388delinsCT	ENSP00000384199.1:p.Thr796=
ENST00000543555.5:c.2189_2190delinsCT	ENSP00000442697.1:p.Thr730=
ENST00000610696.4:c.783_784delinsCT	ENSP00000483159.1:n.783_784delinsCT
ENST00000613514.4:c.927_928delinsCT	ENSP00000484137.1:n.927_928delinsCT
ENST00000617333.3:c.1153_1154delinsCT	ENSP00000482468.1:n.1153_1154delinsCT
ENST00000617938.4:c.1359_1360delinsCT	ENSP00000481158.1:n.1359_1360delinsCT
ENST00000621359.2:c.2386_2387delinsCT	ENSP00000481416.1:p.Leu796=
NM_000251.2:c.2387_2388delinsCT , LRG_218t1:c.2387_2388delinsCT	NP_000242.1:p.Thr796=
NM_001258281.1:c.2189_2190delinsCT	NP_001245210.1:p.Thr730=
XM_005264332.2:c.2387_2388delinsCT	XP_005264389.2:p.Thr796=
XM_011532867.1:c.2387_2388delinsCT	XP_011531169.1:p.Thr796=
XR_939685.1:n.2459_2460delinsCT
XM_005264332.4:c.2387_2388delinsCT	XP_005264389.2:p.Thr796=
XM_011532867.2:c.2387_2388delinsCT	XP_011531169.1:p.Thr796=
XR_001738747.2:n.2449_2450delinsCT
XR_939685.2:n.2449_2450delinsCT
NM_000251.3:c.2387_2388delinsCT MANE Select	NP_000242.1:p.Thr796=