Canonical Allele Identifier: CA2573131799

Gene: HJV

Linked Data

• dbSNP Id: rs2101985261

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019605_146019606insC , CM000663.2:g.146019605_146019606insC	GRCh38
NC_000001.10:g.145415407_145415408insG , CM000663.1:g.145415407_145415408insG	GRCh37
NC_000001.9:g.144126764_144126765insG	NCBI36
NG_011568.1:g.7217_7218insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.226_227insG MANE Select	ENSP00000337014.5:p.Ser76CysfsTer?
ENST00000636675.1:c.-22+92_-22+93insG	ENSP00000490072.1:n.-22+92_-22+93insG
ENST00000336751.10:c.226_227insG	ENSP00000337014.5:p.Ser76CysfsTer?
ENST00000357836.5:c.-114_-113insG	ENSP00000350495.5:n.-114_-113insG
ENST00000421822.2:c.226_227insG	ENSP00000411863.2:p.Ser76CysfsTer?
ENST00000475797.1:c.-21-906_-21-905insG	ENSP00000425716.1:n.-21-906_-21-905insG
ENST00000497365.5:c.-22+92_-22+93insG	ENSP00000421820.1:n.-22+92_-22+93insG
ENST00000634927.1:c.134+92_134+93insG	ENSP00000489347.1:n.134+92_134+93insG
NM_001316767.1:c.-22+92_-22+93insG	NP_001303696.1:n.-22+92_-22+93insG
NM_145277.4:c.-114_-113insG	NP_660320.3:n.-114_-113insG
NM_202004.3:c.-22+92_-22+93insG	NP_973733.1:n.-22+92_-22+93insG
NM_213652.3:c.-21-906_-21-905insG	NP_998817.1:n.-21-906_-21-905insG
NM_213653.3:c.226_227insG	NP_998818.1:p.Ser76CysfsTer?
XM_005272932.1:c.226_227insG	XP_005272989.1:p.Ser76CysfsTer?
NM_001316767.2:c.-22+92_-22+93insG	NP_001303696.1:n.-22+92_-22+93insG
NM_145277.5:c.-114_-113insG	NP_660320.3:n.-114_-113insG
NM_202004.4:c.-22+92_-22+93insG	NP_973733.1:n.-22+92_-22+93insG
NM_213652.4:c.-21-906_-21-905insG	NP_998817.1:n.-21-906_-21-905insG
NM_001379352.1:c.226_227insG	NP_001366281.1:p.Ser76CysfsTer?
NM_213653.4:c.226_227insG MANE Select	NP_998818.1:p.Ser76CysfsTer?