Canonical Allele Identifier: CA2573131059

Gene: HJV

Linked Data

• ClinVar Variation Id: 1377808
• ClinVar RCV Id: RCV001889992
• dbSNP Id: rs2101984604

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019399_146019421del , CM000663.2:g.146019399_146019421del	GRCh38
NC_000001.10:g.145415594_145415616del , CM000663.1:g.145415594_145415616del	GRCh37
NC_000001.9:g.144126951_144126973del	NCBI36
NG_011568.1:g.7404_7426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.413_435del MANE Select	ENSP00000337014.5:p.Ala138GlyfsTer4
ENST00000636675.1:c.-22+279_-22+301del	ENSP00000490072.1:n.-22+279_-22+301del
ENST00000336751.10:c.413_435del	ENSP00000337014.5:p.Ala138GlyfsTer4
ENST00000357836.5:c.74_96del	ENSP00000350495.5:p.Ala25GlyfsTer4
ENST00000475797.1:c.-21-719_-21-697del	ENSP00000425716.1:n.-21-719_-21-697del
ENST00000497365.5:c.-22+279_-22+301del	ENSP00000421820.1:n.-22+279_-22+301del
ENST00000634927.1:c.134+279_134+301del	ENSP00000489347.1:n.134+279_134+301del
NM_001316767.1:c.-22+279_-22+301del	NP_001303696.1:n.-22+279_-22+301del
NM_145277.4:c.74_96del	NP_660320.3:p.Ala25GlyfsTer4
NM_202004.3:c.-22+279_-22+301del	NP_973733.1:n.-22+279_-22+301del
NM_213652.3:c.-21-719_-21-697del	NP_998817.1:n.-21-719_-21-697del
NM_213653.3:c.413_435del	NP_998818.1:p.Ala138GlyfsTer4
XM_005272932.1:c.413_435del	XP_005272989.1:p.Ala138GlyfsTer4
NM_001316767.2:c.-22+279_-22+301del	NP_001303696.1:n.-22+279_-22+301del
NM_145277.5:c.74_96del	NP_660320.3:p.Ala25GlyfsTer4
NM_202004.4:c.-22+279_-22+301del	NP_973733.1:n.-22+279_-22+301del
NM_213652.4:c.-21-719_-21-697del	NP_998817.1:n.-21-719_-21-697del
NM_001379352.1:c.413_435del	NP_001366281.1:p.Ala138GlyfsTer4
NM_213653.4:c.413_435del MANE Select	NP_998818.1:p.Ala138GlyfsTer4