Canonical Allele Identifier: CA1198821369

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019428_146019441delinsAGGGCGGGGCCCCG , CM000663.2:g.146019428_146019441delinsAGGGCGGGGCCCCG	GRCh38
NC_000001.10:g.145415572_145415585delinsCGGGGCCCCGCCCT , CM000663.1:g.145415572_145415585delinsCGGGGCCCCGCCCT	GRCh37
NC_000001.9:g.144126929_144126942delinsCGGGGCCCCGCCCT	NCBI36
NG_011568.1:g.7382_7395delinsCGGGGCCCCGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.391_404delinsCGGGGCCCCGCCCT MANE Select	ENSP00000337014.5:p.Arg131=
ENST00000636675.1:c.-22+257_-22+270delinsCGGGGCCCCGCCCT	ENSP00000490072.1:n.-22+257_-22+270delinsCGGGGCCCCGCCCT
ENST00000336751.10:c.391_404delinsCGGGGCCCCGCCCT	ENSP00000337014.5:p.Arg131=
ENST00000357836.5:c.52_65delinsCGGGGCCCCGCCCT	ENSP00000350495.5:p.Arg18=
ENST00000475797.1:c.-21-741_-21-728delinsCGGGGCCCCGCCCT	ENSP00000425716.1:n.-21-741_-21-728delinsCGGGGCCCCGCCCT
ENST00000497365.5:c.-22+257_-22+270delinsCGGGGCCCCGCCCT	ENSP00000421820.1:n.-22+257_-22+270delinsCGGGGCCCCGCCCT
ENST00000634927.1:c.134+257_134+270delinsCGGGGCCCCGCCCT	ENSP00000489347.1:n.134+257_134+270delinsCGGGGCCCCGCCCT
NM_001316767.1:c.-22+257_-22+270delinsCGGGGCCCCGCCCT	NP_001303696.1:n.-22+257_-22+270delinsCGGGGCCCCGCCCT
NM_145277.4:c.52_65delinsCGGGGCCCCGCCCT	NP_660320.3:p.Arg18=
NM_202004.3:c.-22+257_-22+270delinsCGGGGCCCCGCCCT	NP_973733.1:n.-22+257_-22+270delinsCGGGGCCCCGCCCT
NM_213652.3:c.-21-741_-21-728delinsCGGGGCCCCGCCCT	NP_998817.1:n.-21-741_-21-728delinsCGGGGCCCCGCCCT
NM_213653.3:c.391_404delinsCGGGGCCCCGCCCT	NP_998818.1:p.Arg131=
XM_005272932.1:c.391_404delinsCGGGGCCCCGCCCT	XP_005272989.1:p.Arg131=
NM_001316767.2:c.-22+257_-22+270delinsCGGGGCCCCGCCCT	NP_001303696.1:n.-22+257_-22+270delinsCGGGGCCCCGCCCT
NM_145277.5:c.52_65delinsCGGGGCCCCGCCCT	NP_660320.3:p.Arg18=
NM_202004.4:c.-22+257_-22+270delinsCGGGGCCCCGCCCT	NP_973733.1:n.-22+257_-22+270delinsCGGGGCCCCGCCCT
NM_213652.4:c.-21-741_-21-728delinsCGGGGCCCCGCCCT	NP_998817.1:n.-21-741_-21-728delinsCGGGGCCCCGCCCT
NM_001379352.1:c.391_404delinsCGGGGCCCCGCCCT	NP_001366281.1:p.Arg131=
NM_213653.4:c.391_404delinsCGGGGCCCCGCCCT MANE Select	NP_998818.1:p.Arg131=