Canonical Allele Identifier: CA526253952
Gene: HJV HGNC NCBI

Linked Data

dbSNP Id: rs782590037
MyVariant Identifiers: chr1:g.145416610del (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000336751.11:c.960del MANE Select ENSP00000337014.5:p.Cys321AlafsTer18
ENST00000636675.1:c.282del ENSP00000490072.1:p.Cys95AlafsTer18
ENST00000336751.10:c.960del ENSP00000337014.5:p.Cys321AlafsTer18
ENST00000357836.5:c.621del ENSP00000350495.5:p.Cys208AlafsTer18
ENST00000475797.1:c.282del ENSP00000425716.1:p.Cys95AlafsTer18
ENST00000497365.5:c.282del ENSP00000421820.1:p.Cys95AlafsTer18
NM_001316767.1:c.282del NP_001303696.1:p.Cys95AlafsTer18
NM_145277.4:c.621del NP_660320.3:p.Cys208AlafsTer18
NM_202004.3:c.282del NP_973733.1:p.Cys95AlafsTer18
NM_213652.3:c.282del NP_998817.1:p.Cys95AlafsTer18
NM_213653.3:c.960del NP_998818.1:p.Cys321AlafsTer18
XM_005272932.1:c.960del XP_005272989.1:p.Cys321AlafsTer18
NM_001316767.2:c.282del NP_001303696.1:p.Cys95AlafsTer18
NM_145277.5:c.621del NP_660320.3:p.Cys208AlafsTer18
NM_202004.4:c.282del NP_973733.1:p.Cys95AlafsTer18
NM_213652.4:c.282del NP_998817.1:p.Cys95AlafsTer18
NM_001379352.1:c.960del NP_001366281.1:p.Cys321AlafsTer18
NM_213653.4:c.960del MANE Select NP_998818.1:p.Cys321AlafsTer18