Canonical Allele Identifier: CA1053924

Gene: HJV

Linked Data

• ClinVar Variation Id: 2733977
• ClinVar RCV Id: RCV003562290 ; RCV003988130
• dbSNP Id: rs782590037
• ExAC: 1:145416609 T / TG
• gnomAD v2: 1-145416609-T-TG
• gnomAD v4: 1-146018397-A-AC
• MyVariant Identifiers: chr1:g.145416610_145416611insG (hg19) ; chr1:g.145416609_145416610insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018403dup , CM000663.2:g.146018403dup	GRCh38
NC_000001.10:g.145416615dup , CM000663.1:g.145416615dup	GRCh37
NC_000001.9:g.144127972dup	NCBI36
NG_011568.1:g.8425dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.960dup MANE Select	ENSP00000337014.5:p.Cys321ValfsTer21
ENST00000636675.1:c.282dup	ENSP00000490072.1:p.Cys95ValfsTer21
ENST00000336751.10:c.960dup	ENSP00000337014.5:p.Cys321ValfsTer21
ENST00000357836.5:c.621dup	ENSP00000350495.5:p.Cys208ValfsTer21
ENST00000475797.1:c.282dup	ENSP00000425716.1:p.Cys95ValfsTer21
ENST00000497365.5:c.282dup	ENSP00000421820.1:p.Cys95ValfsTer21
NM_001316767.1:c.282dup	NP_001303696.1:p.Cys95ValfsTer21
NM_145277.4:c.621dup	NP_660320.3:p.Cys208ValfsTer21
NM_202004.3:c.282dup	NP_973733.1:p.Cys95ValfsTer21
NM_213652.3:c.282dup	NP_998817.1:p.Cys95ValfsTer21
NM_213653.3:c.960dup	NP_998818.1:p.Cys321ValfsTer21
XM_005272932.1:c.960dup	XP_005272989.1:p.Cys321ValfsTer21
NM_001316767.2:c.282dup	NP_001303696.1:p.Cys95ValfsTer21
NM_145277.5:c.621dup	NP_660320.3:p.Cys208ValfsTer21
NM_202004.4:c.282dup	NP_973733.1:p.Cys95ValfsTer21
NM_213652.4:c.282dup	NP_998817.1:p.Cys95ValfsTer21
NM_001379352.1:c.960dup	NP_001366281.1:p.Cys321ValfsTer21
NM_213653.4:c.960dup MANE Select	NP_998818.1:p.Cys321ValfsTer21