Canonical Allele Identifier: CA1198821474

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019661_146019663delinsACC , CM000663.2:g.146019661_146019663delinsACC	GRCh38
NC_000001.10:g.145415350_145415352delinsGGT , CM000663.1:g.145415350_145415352delinsGGT	GRCh37
NC_000001.9:g.144126707_144126709delinsGGT	NCBI36
NG_011568.1:g.7160_7162delinsGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.169_171delinsGGT MANE Select	ENSP00000337014.5:p.Gly57=
ENST00000636675.1:c.-22+35_-22+37delinsGGT	ENSP00000490072.1:n.-22+35_-22+37delinsGGT
ENST00000336751.10:c.169_171delinsGGT	ENSP00000337014.5:p.Gly57=
ENST00000357836.5:c.-171_-169delinsGGT	ENSP00000350495.5:n.-171_-169delinsGGT
ENST00000421822.2:c.169_171delinsGGT	ENSP00000411863.2:p.Gly57=
ENST00000475797.1:c.-21-963_-21-961delinsGGT	ENSP00000425716.1:n.-21-963_-21-961delinsGGT
ENST00000497365.5:c.-22+35_-22+37delinsGGT	ENSP00000421820.1:n.-22+35_-22+37delinsGGT
ENST00000634927.1:c.134+35_134+37delinsGGT	ENSP00000489347.1:n.134+35_134+37delinsGGT
NM_001316767.1:c.-22+35_-22+37delinsGGT	NP_001303696.1:n.-22+35_-22+37delinsGGT
NM_145277.4:c.-171_-169delinsGGT	NP_660320.3:n.-171_-169delinsGGT
NM_202004.3:c.-22+35_-22+37delinsGGT	NP_973733.1:n.-22+35_-22+37delinsGGT
NM_213652.3:c.-21-963_-21-961delinsGGT	NP_998817.1:n.-21-963_-21-961delinsGGT
NM_213653.3:c.169_171delinsGGT	NP_998818.1:p.Gly57=
XM_005272932.1:c.169_171delinsGGT	XP_005272989.1:p.Gly57=
NM_001316767.2:c.-22+35_-22+37delinsGGT	NP_001303696.1:n.-22+35_-22+37delinsGGT
NM_145277.5:c.-171_-169delinsGGT	NP_660320.3:n.-171_-169delinsGGT
NM_202004.4:c.-22+35_-22+37delinsGGT	NP_973733.1:n.-22+35_-22+37delinsGGT
NM_213652.4:c.-21-963_-21-961delinsGGT	NP_998817.1:n.-21-963_-21-961delinsGGT
NM_001379352.1:c.169_171delinsGGT	NP_001366281.1:p.Gly57=
NM_213653.4:c.169_171delinsGGT MANE Select	NP_998818.1:p.Gly57=