Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475260_47475262delinsCAT , CM000664.2:g.47475260_47475262delinsCAT	GRCh38
NC_000002.11:g.47702399_47702401delinsCAT , CM000664.1:g.47702399_47702401delinsCAT	GRCh37
NC_000002.10:g.47555903_47555905delinsCAT	NCBI36
NG_007110.2:g.77137_77139delinsCAT , LRG_218:g.77137_77139delinsCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1995_1997delinsCAT	ENSP00000495641.2:p.His665=
ENST00000233146.7:c.1995_1997delinsCAT MANE Select	ENSP00000233146.2:p.His665=
ENST00000543555.6:c.1797_1799delinsCAT	ENSP00000442697.1:p.His599=
ENST00000644092.1:c.295_297delinsCAT	ENSP00000496351.1:n.295_297delinsCAT
ENST00000645339.1:c.1995_1997delinsCAT	ENSP00000496441.1:p.His665=
ENST00000645506.1:c.1995_1997delinsCAT	ENSP00000495455.1:p.His665=
ENST00000646415.1:c.1995_1997delinsCAT	ENSP00000495543.1:p.His665=
ENST00000233146.6:c.1995_1997delinsCAT	ENSP00000233146.2:p.His665=
ENST00000406134.5:c.1995_1997delinsCAT	ENSP00000384199.1:p.His665=
ENST00000543555.5:c.1797_1799delinsCAT	ENSP00000442697.1:p.His599=
ENST00000610696.4:c.391_393delinsCAT	ENSP00000483159.1:n.391_393delinsCAT
ENST00000613514.4:c.535_537delinsCAT	ENSP00000484137.1:n.535_537delinsCAT
ENST00000617333.3:c.761_763delinsCAT	ENSP00000482468.1:n.761_763delinsCAT
ENST00000617938.4:c.967_969delinsCAT	ENSP00000481158.1:n.967_969delinsCAT
ENST00000621359.2:c.1995_1997delinsCAT	ENSP00000481416.1:p.His665=
NM_000251.2:c.1995_1997delinsCAT , LRG_218t1:c.1995_1997delinsCAT	NP_000242.1:p.His665=
NM_001258281.1:c.1797_1799delinsCAT	NP_001245210.1:p.His599=
XM_005264332.2:c.1995_1997delinsCAT	XP_005264389.2:p.His665=
XM_011532867.1:c.1995_1997delinsCAT	XP_011531169.1:p.His665=
XR_939685.1:n.2067_2069delinsCAT
XM_005264332.4:c.1995_1997delinsCAT	XP_005264389.2:p.His665=
XM_011532867.2:c.1995_1997delinsCAT	XP_011531169.1:p.His665=
XR_001738747.2:n.2057_2059delinsCAT
XR_939685.2:n.2057_2059delinsCAT
NM_000251.3:c.1995_1997delinsCAT MANE Select	NP_000242.1:p.His665=