Canonical Allele Identifier: CA3038367958

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018393_146018400del , CM000663.2:g.146018393_146018400del	GRCh38
NC_000001.10:g.145416613_145416620del , CM000663.1:g.145416613_145416620del	GRCh37
NC_000001.9:g.144127970_144127977del	NCBI36
NG_011568.1:g.8423_8430del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.958_965del MANE Select	ENSP00000337014.5:p.Gly320SerfsTer19
ENST00000636675.1:c.280_287del	ENSP00000490072.1:p.Gly94SerfsTer19
ENST00000336751.10:c.958_965del	ENSP00000337014.5:p.Gly320SerfsTer19
ENST00000357836.5:c.619_626del	ENSP00000350495.5:p.Gly207SerfsTer19
ENST00000475797.1:c.280_287del	ENSP00000425716.1:p.Gly94SerfsTer19
ENST00000497365.5:c.280_287del	ENSP00000421820.1:p.Gly94SerfsTer19
NM_001316767.1:c.280_287del	NP_001303696.1:p.Gly94SerfsTer19
NM_145277.4:c.619_626del	NP_660320.3:p.Gly207SerfsTer19
NM_202004.3:c.280_287del	NP_973733.1:p.Gly94SerfsTer19
NM_213652.3:c.280_287del	NP_998817.1:p.Gly94SerfsTer19
NM_213653.3:c.958_965del	NP_998818.1:p.Gly320SerfsTer19
XM_005272932.1:c.958_965del	XP_005272989.1:p.Gly320SerfsTer19
NM_001316767.2:c.280_287del	NP_001303696.1:p.Gly94SerfsTer19
NM_145277.5:c.619_626del	NP_660320.3:p.Gly207SerfsTer19
NM_202004.4:c.280_287del	NP_973733.1:p.Gly94SerfsTer19
NM_213652.4:c.280_287del	NP_998817.1:p.Gly94SerfsTer19
NM_001379352.1:c.958_965del	NP_001366281.1:p.Gly320SerfsTer19
NM_213653.4:c.958_965del MANE Select	NP_998818.1:p.Gly320SerfsTer19