Canonical Allele Identifier: CA526254009

Gene: HJV

Linked Data

• dbSNP Id: rs1332315688
• gnomAD v2: 1-145415611-GC-G
• MyVariant Identifiers: chr1:g.145415612del (hg19) ; chr1:g.146019398del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019401del , CM000663.2:g.146019401del	GRCh38
NC_000001.10:g.145415615del , CM000663.1:g.145415615del	GRCh37
NC_000001.9:g.144126972del	NCBI36
NG_011568.1:g.7425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.434del MANE Select	ENSP00000337014.5:p.Pro145ArgfsTer?
ENST00000636675.1:c.-22+300del	ENSP00000490072.1:n.-22+300del
ENST00000336751.10:c.434del	ENSP00000337014.5:p.Pro145ArgfsTer?
ENST00000357836.5:c.95del	ENSP00000350495.5:p.Pro32ArgfsTer?
ENST00000475797.1:c.-21-698del	ENSP00000425716.1:n.-21-698del
ENST00000497365.5:c.-22+300del	ENSP00000421820.1:n.-22+300del
ENST00000634927.1:c.134+300del	ENSP00000489347.1:n.134+300del
NM_001316767.1:c.-22+300del	NP_001303696.1:n.-22+300del
NM_145277.4:c.95del	NP_660320.3:p.Pro32ArgfsTer?
NM_202004.3:c.-22+300del	NP_973733.1:n.-22+300del
NM_213652.3:c.-21-698del	NP_998817.1:n.-21-698del
NM_213653.3:c.434del	NP_998818.1:p.Pro145ArgfsTer?
XM_005272932.1:c.434del	XP_005272989.1:p.Pro145ArgfsTer?
NM_001316767.2:c.-22+300del	NP_001303696.1:n.-22+300del
NM_145277.5:c.95del	NP_660320.3:p.Pro32ArgfsTer?
NM_202004.4:c.-22+300del	NP_973733.1:n.-22+300del
NM_213652.4:c.-21-698del	NP_998817.1:n.-21-698del
NM_001379352.1:c.434del	NP_001366281.1:p.Pro145ArgfsTer?
NM_213653.4:c.434del MANE Select	NP_998818.1:p.Pro145ArgfsTer?