Canonical Allele Identifier: CA2647575845

Gene: HJV

Linked Data

• gnomAD v4: 1-146019696-A-ACT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019698_146019699dup , CM000663.2:g.146019698_146019699dup	GRCh38
NC_000001.10:g.145415315_145415316dup , CM000663.1:g.145415315_145415316dup	GRCh37
NC_000001.9:g.144126672_144126673dup	NCBI36
NG_011568.1:g.7125_7126dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.134_135dup MANE Select	ENSP00000337014.5:p.Tyr46SerfsTer7
ENST00000636675.1:c.-22_-22+1dup
ENST00000336751.10:c.134_135dup	ENSP00000337014.5:p.Tyr46SerfsTer7
ENST00000357836.5:c.-206_-205dup	ENSP00000350495.5:n.-206_-205dup
ENST00000421822.2:c.134_135dup	ENSP00000411863.2:p.Tyr46SerfsTer7
ENST00000475797.1:c.-21-998_-21-997dup	ENSP00000425716.1:n.-21-998_-21-997dup
ENST00000497365.5:c.-22_-22+1dup
ENST00000634927.1:c.134_134+1dup
NM_001316767.1:c.-22_-22+1dup
NM_145277.4:c.-206_-205dup	NP_660320.3:n.-206_-205dup
NM_202004.3:c.-22_-22+1dup
NM_213652.3:c.-21-998_-21-997dup	NP_998817.1:n.-21-998_-21-997dup
NM_213653.3:c.134_135dup	NP_998818.1:p.Tyr46SerfsTer7
XM_005272932.1:c.134_135dup	XP_005272989.1:p.Tyr46SerfsTer7
NM_001316767.2:c.-22_-22+1dup
NM_145277.5:c.-206_-205dup	NP_660320.3:n.-206_-205dup
NM_202004.4:c.-22_-22+1dup
NM_213652.4:c.-21-998_-21-997dup	NP_998817.1:n.-21-998_-21-997dup
NM_001379352.1:c.134_135dup	NP_001366281.1:p.Tyr46SerfsTer7
NM_213653.4:c.134_135dup MANE Select	NP_998818.1:p.Tyr46SerfsTer7