Canonical Allele Identifier: CA2647575844

Gene: HJV

Linked Data

• gnomAD v4: 1-146019672-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019674del , CM000663.2:g.146019674del	GRCh38
NC_000001.10:g.145415340del , CM000663.1:g.145415340del	GRCh37
NC_000001.9:g.144126697del	NCBI36
NG_011568.1:g.7150del

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.159del MANE Select	ENSP00000337014.5:p.Arg54GlufsTer?
ENST00000636675.1:c.-22+25del	ENSP00000490072.1:n.-22+25del
ENST00000336751.10:c.159del	ENSP00000337014.5:p.Arg54GlufsTer?
ENST00000357836.5:c.-181del	ENSP00000350495.5:n.-181del
ENST00000421822.2:c.159del	ENSP00000411863.2:p.Arg54GlufsTer?
ENST00000475797.1:c.-21-973del	ENSP00000425716.1:n.-21-973del
ENST00000497365.5:c.-22+25del	ENSP00000421820.1:n.-22+25del
ENST00000634927.1:c.134+25del	ENSP00000489347.1:n.134+25del
NM_001316767.1:c.-22+25del	NP_001303696.1:n.-22+25del
NM_145277.4:c.-181del	NP_660320.3:n.-181del
NM_202004.3:c.-22+25del	NP_973733.1:n.-22+25del
NM_213652.3:c.-21-973del	NP_998817.1:n.-21-973del
NM_213653.3:c.159del	NP_998818.1:p.Arg54GlufsTer?
XM_005272932.1:c.159del	XP_005272989.1:p.Arg54GlufsTer?
NM_001316767.2:c.-22+25del	NP_001303696.1:n.-22+25del
NM_145277.5:c.-181del	NP_660320.3:n.-181del
NM_202004.4:c.-22+25del	NP_973733.1:n.-22+25del
NM_213652.4:c.-21-973del	NP_998817.1:n.-21-973del
NM_001379352.1:c.159del	NP_001366281.1:p.Arg54GlufsTer?
NM_213653.4:c.159del MANE Select	NP_998818.1:p.Arg54GlufsTer?