Canonical Allele Identifier: CA526254186

Gene: HJV

Linked Data

• dbSNP Id: rs1553769349
• gnomAD v2: 1-145416909-CTT-C
• MyVariant Identifiers: chr1:g.145416910_145416911del (hg19) ; chr1:g.146018101_146018102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018102_146018103del , CM000663.2:g.146018102_146018103del	GRCh38
NC_000001.10:g.145416911_145416912del , CM000663.1:g.145416911_145416912del	GRCh37
NC_000001.9:g.144128268_144128269del	NCBI36
NG_011568.1:g.8721_8722del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.1256_1257del MANE Select	ENSP00000337014.5:p.Phe419CysfsTer20
ENST00000636675.1:c.578_579del	ENSP00000490072.1:p.Phe193CysfsTer20
ENST00000336751.10:c.1256_1257del	ENSP00000337014.5:p.Phe419CysfsTer20
ENST00000357836.5:c.917_918del	ENSP00000350495.5:p.Phe306CysfsTer20
ENST00000475797.1:c.578_579del	ENSP00000425716.1:p.Phe193CysfsTer20
ENST00000497365.5:c.578_579del	ENSP00000421820.1:p.Phe193CysfsTer20
NM_001316767.1:c.578_579del	NP_001303696.1:p.Phe193CysfsTer20
NM_145277.4:c.917_918del	NP_660320.3:p.Phe306CysfsTer20
NM_202004.3:c.578_579del	NP_973733.1:p.Phe193CysfsTer20
NM_213652.3:c.578_579del	NP_998817.1:p.Phe193CysfsTer20
NM_213653.3:c.1256_1257del	NP_998818.1:p.Phe419CysfsTer20
XM_005272932.1:c.1256_1257del	XP_005272989.1:p.Phe419CysfsTer20
NM_001316767.2:c.578_579del	NP_001303696.1:p.Phe193CysfsTer20
NM_145277.5:c.917_918del	NP_660320.3:p.Phe306CysfsTer20
NM_202004.4:c.578_579del	NP_973733.1:p.Phe193CysfsTer20
NM_213652.4:c.578_579del	NP_998817.1:p.Phe193CysfsTer20
NM_001379352.1:c.1256_1257del	NP_001366281.1:p.Phe419CysfsTer20
NM_213653.4:c.1256_1257del MANE Select	NP_998818.1:p.Phe419CysfsTer20