Canonical Allele Identifier: CA2647575841

Gene: HJV

Linked Data

• dbSNP Id: rs2101985277
• gnomAD v4: 1-146019607-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019607_146019608insGC , CM000663.2:g.146019607_146019608insGC	GRCh38
NC_000001.10:g.145415405_145415406insGC , CM000663.1:g.145415405_145415406insGC	GRCh37
NC_000001.9:g.144126762_144126763insGC	NCBI36
NG_011568.1:g.7215_7216insGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.224_225insGC MANE Select	ENSP00000337014.5:p.Ser76ProfsTer?
ENST00000636675.1:c.-22+90_-22+91insGC	ENSP00000490072.1:n.-22+90_-22+91insGC
ENST00000336751.10:c.224_225insGC	ENSP00000337014.5:p.Ser76ProfsTer?
ENST00000357836.5:c.-116_-115insGC	ENSP00000350495.5:n.-116_-115insGC
ENST00000421822.2:c.224_225insGC	ENSP00000411863.2:p.Ser76ProfsTer?
ENST00000475797.1:c.-21-908_-21-907insGC	ENSP00000425716.1:n.-21-908_-21-907insGC
ENST00000497365.5:c.-22+90_-22+91insGC	ENSP00000421820.1:n.-22+90_-22+91insGC
ENST00000634927.1:c.134+90_134+91insGC	ENSP00000489347.1:n.134+90_134+91insGC
NM_001316767.1:c.-22+90_-22+91insGC	NP_001303696.1:n.-22+90_-22+91insGC
NM_145277.4:c.-116_-115insGC	NP_660320.3:n.-116_-115insGC
NM_202004.3:c.-22+90_-22+91insGC	NP_973733.1:n.-22+90_-22+91insGC
NM_213652.3:c.-21-908_-21-907insGC	NP_998817.1:n.-21-908_-21-907insGC
NM_213653.3:c.224_225insGC	NP_998818.1:p.Ser76ProfsTer?
XM_005272932.1:c.224_225insGC	XP_005272989.1:p.Ser76ProfsTer?
NM_001316767.2:c.-22+90_-22+91insGC	NP_001303696.1:n.-22+90_-22+91insGC
NM_145277.5:c.-116_-115insGC	NP_660320.3:n.-116_-115insGC
NM_202004.4:c.-22+90_-22+91insGC	NP_973733.1:n.-22+90_-22+91insGC
NM_213652.4:c.-21-908_-21-907insGC	NP_998817.1:n.-21-908_-21-907insGC
NM_001379352.1:c.224_225insGC	NP_001366281.1:p.Ser76ProfsTer?
NM_213653.4:c.224_225insGC MANE Select	NP_998818.1:p.Ser76ProfsTer?