Canonical Allele Identifier: CA2697182189

Gene: HJV

Linked Data

• dbSNP Id: rs2101985240

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019600_146019606del , CM000663.2:g.146019600_146019606del	GRCh38
NC_000001.10:g.145415407_145415413del , CM000663.1:g.145415407_145415413del	GRCh37
NC_000001.9:g.144126764_144126770del	NCBI36
NG_011568.1:g.7217_7223del

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.226_232del MANE Select	ENSP00000337014.5:p.Ser76AlafsTer?
ENST00000636675.1:c.-22+92_-22+98del	ENSP00000490072.1:n.-22+92_-22+98del
ENST00000336751.10:c.226_232del	ENSP00000337014.5:p.Ser76AlafsTer?
ENST00000357836.5:c.-114_-108del	ENSP00000350495.5:n.-114_-108del
ENST00000421822.2:c.226_232del	ENSP00000411863.2:p.Ser76AlafsTer?
ENST00000475797.1:c.-21-906_-21-900del	ENSP00000425716.1:n.-21-906_-21-900del
ENST00000497365.5:c.-22+92_-22+98del	ENSP00000421820.1:n.-22+92_-22+98del
ENST00000634927.1:c.134+92_134+98del	ENSP00000489347.1:n.134+92_134+98del
NM_001316767.1:c.-22+92_-22+98del	NP_001303696.1:n.-22+92_-22+98del
NM_145277.4:c.-114_-108del	NP_660320.3:n.-114_-108del
NM_202004.3:c.-22+92_-22+98del	NP_973733.1:n.-22+92_-22+98del
NM_213652.3:c.-21-906_-21-900del	NP_998817.1:n.-21-906_-21-900del
NM_213653.3:c.226_232del	NP_998818.1:p.Ser76AlafsTer?
XM_005272932.1:c.226_232del	XP_005272989.1:p.Ser76AlafsTer?
NM_001316767.2:c.-22+92_-22+98del	NP_001303696.1:n.-22+92_-22+98del
NM_145277.5:c.-114_-108del	NP_660320.3:n.-114_-108del
NM_202004.4:c.-22+92_-22+98del	NP_973733.1:n.-22+92_-22+98del
NM_213652.4:c.-21-906_-21-900del	NP_998817.1:n.-21-906_-21-900del
NM_001379352.1:c.226_232del	NP_001366281.1:p.Ser76AlafsTer?
NM_213653.4:c.226_232del MANE Select	NP_998818.1:p.Ser76AlafsTer?