Canonical Allele Identifier: CA1198821252

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019177_146019178delinsTC , CM000663.2:g.146019177_146019178delinsTC	GRCh38
NC_000001.10:g.145415835_145415836delinsGA , CM000663.1:g.145415835_145415836delinsGA	GRCh37
NC_000001.9:g.144127192_144127193delinsGA	NCBI36
NG_011568.1:g.7645_7646delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.654_655delinsGA MANE Select	ENSP00000337014.5:p.Arg218=
ENST00000636675.1:c.-21-478_-21-477delinsGA	ENSP00000490072.1:n.-21-478_-21-477delinsGA
ENST00000336751.10:c.654_655delinsGA	ENSP00000337014.5:p.Arg218=
ENST00000357836.5:c.315_316delinsGA	ENSP00000350495.5:p.Arg105=
ENST00000475797.1:c.-21-478_-21-477delinsGA	ENSP00000425716.1:n.-21-478_-21-477delinsGA
ENST00000497365.5:c.-21-478_-21-477delinsGA	ENSP00000421820.1:n.-21-478_-21-477delinsGA
ENST00000634927.1:c.135-478_135-477delinsGA	ENSP00000489347.1:n.135-478_135-477delinsGA
NM_001316767.1:c.-21-478_-21-477delinsGA	NP_001303696.1:n.-21-478_-21-477delinsGA
NM_145277.4:c.315_316delinsGA	NP_660320.3:p.Arg105=
NM_202004.3:c.-21-478_-21-477delinsGA	NP_973733.1:n.-21-478_-21-477delinsGA
NM_213652.3:c.-21-478_-21-477delinsGA	NP_998817.1:n.-21-478_-21-477delinsGA
NM_213653.3:c.654_655delinsGA	NP_998818.1:p.Arg218=
XM_005272932.1:c.654_655delinsGA	XP_005272989.1:p.Arg218=
NM_001316767.2:c.-21-478_-21-477delinsGA	NP_001303696.1:n.-21-478_-21-477delinsGA
NM_145277.5:c.315_316delinsGA	NP_660320.3:p.Arg105=
NM_202004.4:c.-21-478_-21-477delinsGA	NP_973733.1:n.-21-478_-21-477delinsGA
NM_213652.4:c.-21-478_-21-477delinsGA	NP_998817.1:n.-21-478_-21-477delinsGA
NM_001379352.1:c.654_655delinsGA	NP_001366281.1:p.Arg218=
NM_213653.4:c.654_655delinsGA MANE Select	NP_998818.1:p.Arg218=