Canonical Allele Identifier: CA1053977

Gene: HJV

Linked Data

• dbSNP Id: rs781816924
• ExAC: 1:145416837 GC / G
• gnomAD v2: 1-145416837-GC-G
• gnomAD v4: 1-146018174-TG-T
• MyVariant Identifiers: chr1:g.145416838del (hg19) ; chr1:g.146018175del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018175del , CM000663.2:g.146018175del	GRCh38
NC_000001.10:g.145416838del , CM000663.1:g.145416838del	GRCh37
NC_000001.9:g.144128195del	NCBI36
NG_011568.1:g.8648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.1183del MANE Select	ENSP00000337014.5:p.His395IlefsTer17
ENST00000636675.1:c.505del	ENSP00000490072.1:p.His169IlefsTer17
ENST00000336751.10:c.1183del	ENSP00000337014.5:p.His395IlefsTer17
ENST00000357836.5:c.844del	ENSP00000350495.5:p.His282IlefsTer17
ENST00000475797.1:c.505del	ENSP00000425716.1:p.His169IlefsTer17
ENST00000497365.5:c.505del	ENSP00000421820.1:p.His169IlefsTer17
NM_001316767.1:c.505del	NP_001303696.1:p.His169IlefsTer17
NM_145277.4:c.844del	NP_660320.3:p.His282IlefsTer17
NM_202004.3:c.505del	NP_973733.1:p.His169IlefsTer17
NM_213652.3:c.505del	NP_998817.1:p.His169IlefsTer17
NM_213653.3:c.1183del	NP_998818.1:p.His395IlefsTer17
XM_005272932.1:c.1183del	XP_005272989.1:p.His395IlefsTer17
NM_001316767.2:c.505del	NP_001303696.1:p.His169IlefsTer17
NM_145277.5:c.844del	NP_660320.3:p.His282IlefsTer17
NM_202004.4:c.505del	NP_973733.1:p.His169IlefsTer17
NM_213652.4:c.505del	NP_998817.1:p.His169IlefsTer17
NM_001379352.1:c.1183del	NP_001366281.1:p.His395IlefsTer17
NM_213653.4:c.1183del MANE Select	NP_998818.1:p.His395IlefsTer17