Canonical Allele Identifier: CA2647575248

Gene: HJV

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018289_146018308dup , CM000663.2:g.146018289_146018308dup	GRCh38
NC_000001.10:g.145416705_145416724dup , CM000663.1:g.145416705_145416724dup	GRCh37
NC_000001.9:g.144128062_144128081dup	NCBI36
NG_011568.1:g.8515_8534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.1050_1069dup MANE Select	ENSP00000337014.5:p.Tyr357CysfsTer17
ENST00000636675.1:c.372_391dup	ENSP00000490072.1:p.Tyr131CysfsTer17
ENST00000336751.10:c.1050_1069dup	ENSP00000337014.5:p.Tyr357CysfsTer17
ENST00000357836.5:c.711_730dup	ENSP00000350495.5:p.Tyr244CysfsTer17
ENST00000475797.1:c.372_391dup	ENSP00000425716.1:p.Tyr131CysfsTer17
ENST00000497365.5:c.372_391dup	ENSP00000421820.1:p.Tyr131CysfsTer17
NM_001316767.1:c.372_391dup	NP_001303696.1:p.Tyr131CysfsTer17
NM_145277.4:c.711_730dup	NP_660320.3:p.Tyr244CysfsTer17
NM_202004.3:c.372_391dup	NP_973733.1:p.Tyr131CysfsTer17
NM_213652.3:c.372_391dup	NP_998817.1:p.Tyr131CysfsTer17
NM_213653.3:c.1050_1069dup	NP_998818.1:p.Tyr357CysfsTer17
XM_005272932.1:c.1050_1069dup	XP_005272989.1:p.Tyr357CysfsTer17
NM_001316767.2:c.372_391dup	NP_001303696.1:p.Tyr131CysfsTer17
NM_145277.5:c.711_730dup	NP_660320.3:p.Tyr244CysfsTer17
NM_202004.4:c.372_391dup	NP_973733.1:p.Tyr131CysfsTer17
NM_213652.4:c.372_391dup	NP_998817.1:p.Tyr131CysfsTer17
NM_001379352.1:c.1050_1069dup	NP_001366281.1:p.Tyr357CysfsTer17
NM_213653.4:c.1050_1069dup MANE Select	NP_998818.1:p.Tyr357CysfsTer17