Canonical Allele Identifier: CA2647575368

Gene: HJV

Linked Data

• gnomAD v4: 1-146018513-CCAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018514_146018516del , CM000663.2:g.146018514_146018516del	GRCh38
NC_000001.10:g.145416497_145416499del , CM000663.1:g.145416497_145416499del	GRCh37
NC_000001.9:g.144127854_144127856del	NCBI36
NG_011568.1:g.8307_8309del

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.842_844del MANE Select	ENSP00000337014.5:p.Ile281_Gly282delinsSe...
ENST00000636675.1:c.164_166del	ENSP00000490072.1:p.Ile55_Gly56delinsSer
ENST00000336751.10:c.842_844del	ENSP00000337014.5:p.Ile281_Gly282delinsSe...
ENST00000357836.5:c.503_505del	ENSP00000350495.5:p.Ile168_Gly169delinsSe...
ENST00000475797.1:c.164_166del	ENSP00000425716.1:p.Ile55_Gly56delinsSer
ENST00000497365.5:c.164_166del	ENSP00000421820.1:p.Ile55_Gly56delinsSer
NM_001316767.1:c.164_166del	NP_001303696.1:p.Ile55_Gly56delinsSer
NM_145277.4:c.503_505del	NP_660320.3:p.Ile168_Gly169delinsSer
NM_202004.3:c.164_166del	NP_973733.1:p.Ile55_Gly56delinsSer
NM_213652.3:c.164_166del	NP_998817.1:p.Ile55_Gly56delinsSer
NM_213653.3:c.842_844del	NP_998818.1:p.Ile281_Gly282delinsSer
XM_005272932.1:c.842_844del	XP_005272989.1:p.Ile281_Gly282delinsSer
NM_001316767.2:c.164_166del	NP_001303696.1:p.Ile55_Gly56delinsSer
NM_145277.5:c.503_505del	NP_660320.3:p.Ile168_Gly169delinsSer
NM_202004.4:c.164_166del	NP_973733.1:p.Ile55_Gly56delinsSer
NM_213652.4:c.164_166del	NP_998817.1:p.Ile55_Gly56delinsSer
NM_001379352.1:c.842_844del	NP_001366281.1:p.Ile281_Gly282delinsSer
NM_213653.4:c.842_844del MANE Select	NP_998818.1:p.Ile281_Gly282delinsSer