Canonical Allele Identifier: CA252259

Gene: HJV

Linked Data

• ClinVar Variation Id: 2372
• ClinVar RCV Id: RCV000002470
• dbSNP Id: rs786205063
• MyVariant Identifiers: chr1:g.145416637_145416640del (hg19) ; chr1:g.146018373_146018376del (hg38)
• PubMed: PMID:15811010

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018376_146018379del , CM000663.2:g.146018376_146018379del	GRCh38
NC_000001.10:g.145416637_145416640del , CM000663.1:g.145416637_145416640del	GRCh37
NC_000001.9:g.144127994_144127997del	NCBI36
NG_011568.1:g.8447_8450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.982_985del MANE Select	ENSP00000337014.5:p.Ser328AspfsTer10
ENST00000636675.1:c.304_307del	ENSP00000490072.1:p.Ser102AspfsTer10
ENST00000336751.10:c.982_985del	ENSP00000337014.5:p.Ser328AspfsTer10
ENST00000357836.5:c.643_646del	ENSP00000350495.5:p.Ser215AspfsTer10
ENST00000475797.1:c.304_307del	ENSP00000425716.1:p.Ser102AspfsTer10
ENST00000497365.5:c.304_307del	ENSP00000421820.1:p.Ser102AspfsTer10
NM_001316767.1:c.304_307del	NP_001303696.1:p.Ser102AspfsTer10
NM_145277.4:c.643_646del	NP_660320.3:p.Ser215AspfsTer10
NM_202004.3:c.304_307del	NP_973733.1:p.Ser102AspfsTer10
NM_213652.3:c.304_307del	NP_998817.1:p.Ser102AspfsTer10
NM_213653.3:c.982_985del	NP_998818.1:p.Ser328AspfsTer10
XM_005272932.1:c.982_985del	XP_005272989.1:p.Ser328AspfsTer10
NM_001316767.2:c.304_307del	NP_001303696.1:p.Ser102AspfsTer10
NM_145277.5:c.643_646del	NP_660320.3:p.Ser215AspfsTer10
NM_202004.4:c.304_307del	NP_973733.1:p.Ser102AspfsTer10
NM_213652.4:c.304_307del	NP_998817.1:p.Ser102AspfsTer10
NM_001379352.1:c.982_985del	NP_001366281.1:p.Ser328AspfsTer10
NM_213653.4:c.982_985del MANE Select	NP_998818.1:p.Ser328AspfsTer10