Canonical Allele Identifier: CA2647575840

Gene: HJV

Linked Data

• dbSNP Id: rs2101985271
• gnomAD v4: 1-146019606-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019607dup , CM000663.2:g.146019607dup	GRCh38
NC_000001.10:g.145415406dup , CM000663.1:g.145415406dup	GRCh37
NC_000001.9:g.144126763dup	NCBI36
NG_011568.1:g.7216dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.225dup MANE Select	ENSP00000337014.5:p.Ser76LeufsTer?
ENST00000636675.1:c.-22+91dup	ENSP00000490072.1:n.-22+91dup
ENST00000336751.10:c.225dup	ENSP00000337014.5:p.Ser76LeufsTer?
ENST00000357836.5:c.-115dup	ENSP00000350495.5:n.-115dup
ENST00000421822.2:c.225dup	ENSP00000411863.2:p.Ser76LeufsTer?
ENST00000475797.1:c.-21-907dup	ENSP00000425716.1:n.-21-907dup
ENST00000497365.5:c.-22+91dup	ENSP00000421820.1:n.-22+91dup
ENST00000634927.1:c.134+91dup	ENSP00000489347.1:n.134+91dup
NM_001316767.1:c.-22+91dup	NP_001303696.1:n.-22+91dup
NM_145277.4:c.-115dup	NP_660320.3:n.-115dup
NM_202004.3:c.-22+91dup	NP_973733.1:n.-22+91dup
NM_213652.3:c.-21-907dup	NP_998817.1:n.-21-907dup
NM_213653.3:c.225dup	NP_998818.1:p.Ser76LeufsTer?
XM_005272932.1:c.225dup	XP_005272989.1:p.Ser76LeufsTer?
NM_001316767.2:c.-22+91dup	NP_001303696.1:n.-22+91dup
NM_145277.5:c.-115dup	NP_660320.3:n.-115dup
NM_202004.4:c.-22+91dup	NP_973733.1:n.-22+91dup
NM_213652.4:c.-21-907dup	NP_998817.1:n.-21-907dup
NM_001379352.1:c.225dup	NP_001366281.1:p.Ser76LeufsTer?
NM_213653.4:c.225dup MANE Select	NP_998818.1:p.Ser76LeufsTer?