Canonical Allele Identifier: CA2586967192

Gene: HJV

Linked Data

• ClinVar Variation Id: 2733978
• ClinVar RCV Id: RCV003562291

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018395_146018396delinsTT , CM000663.2:g.146018395_146018396delinsTT	GRCh38
NC_000001.10:g.145416617_145416618delinsAA , CM000663.1:g.145416617_145416618delinsAA	GRCh37
NC_000001.9:g.144127974_144127975delinsAA	NCBI36
NG_011568.1:g.8427_8428delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.962_963delinsAA MANE Select	ENSP00000337014.5:p.Cys321Ter
ENST00000636675.1:c.284_285delinsAA	ENSP00000490072.1:p.Cys95Ter
ENST00000336751.10:c.962_963delinsAA	ENSP00000337014.5:p.Cys321Ter
ENST00000357836.5:c.623_624delinsAA	ENSP00000350495.5:p.Cys208Ter
ENST00000475797.1:c.284_285delinsAA	ENSP00000425716.1:p.Cys95Ter
ENST00000497365.5:c.284_285delinsAA	ENSP00000421820.1:p.Cys95Ter
NM_001316767.1:c.284_285delinsAA	NP_001303696.1:p.Cys95Ter
NM_145277.4:c.623_624delinsAA	NP_660320.3:p.Cys208Ter
NM_202004.3:c.284_285delinsAA	NP_973733.1:p.Cys95Ter
NM_213652.3:c.284_285delinsAA	NP_998817.1:p.Cys95Ter
NM_213653.3:c.962_963delinsAA	NP_998818.1:p.Cys321Ter
XM_005272932.1:c.962_963delinsAA	XP_005272989.1:p.Cys321Ter
NM_001316767.2:c.284_285delinsAA	NP_001303696.1:p.Cys95Ter
NM_145277.5:c.623_624delinsAA	NP_660320.3:p.Cys208Ter
NM_202004.4:c.284_285delinsAA	NP_973733.1:p.Cys95Ter
NM_213652.4:c.284_285delinsAA	NP_998817.1:p.Cys95Ter
NM_001379352.1:c.962_963delinsAA	NP_001366281.1:p.Cys321Ter
NM_213653.4:c.962_963delinsAA MANE Select	NP_998818.1:p.Cys321Ter