Canonical Allele Identifier: CA2574047935

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019577_146019578dup , CM000663.2:g.146019577_146019578dup	GRCh38
NC_000001.10:g.145415435_145415436dup , CM000663.1:g.145415435_145415436dup	GRCh37
NC_000001.9:g.144126792_144126793dup	NCBI36
NG_011568.1:g.7245_7246dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.254_255dup MANE Select	ENSP00000337014.5:p.Tyr86ProfsTer29
ENST00000636675.1:c.-22+120_-22+121dup	ENSP00000490072.1:n.-22+120_-22+121dup
ENST00000336751.10:c.254_255dup	ENSP00000337014.5:p.Tyr86ProfsTer29
ENST00000357836.5:c.-86_-85dup	ENSP00000350495.5:n.-86_-85dup
ENST00000421822.2:c.254_255dup	ENSP00000411863.2:p.Tyr86ProfsTer?
ENST00000475797.1:c.-21-878_-21-877dup	ENSP00000425716.1:n.-21-878_-21-877dup
ENST00000497365.5:c.-22+120_-22+121dup	ENSP00000421820.1:n.-22+120_-22+121dup
ENST00000634927.1:c.134+120_134+121dup	ENSP00000489347.1:n.134+120_134+121dup
NM_001316767.1:c.-22+120_-22+121dup	NP_001303696.1:n.-22+120_-22+121dup
NM_145277.4:c.-86_-85dup	NP_660320.3:n.-86_-85dup
NM_202004.3:c.-22+120_-22+121dup	NP_973733.1:n.-22+120_-22+121dup
NM_213652.3:c.-21-878_-21-877dup	NP_998817.1:n.-21-878_-21-877dup
NM_213653.3:c.254_255dup	NP_998818.1:p.Tyr86ProfsTer29
XM_005272932.1:c.254_255dup	XP_005272989.1:p.Tyr86ProfsTer29
NM_001316767.2:c.-22+120_-22+121dup	NP_001303696.1:n.-22+120_-22+121dup
NM_145277.5:c.-86_-85dup	NP_660320.3:n.-86_-85dup
NM_202004.4:c.-22+120_-22+121dup	NP_973733.1:n.-22+120_-22+121dup
NM_213652.4:c.-21-878_-21-877dup	NP_998817.1:n.-21-878_-21-877dup
NM_001379352.1:c.254_255dup	NP_001366281.1:p.Tyr86ProfsTer29
NM_213653.4:c.254_255dup MANE Select	NP_998818.1:p.Tyr86ProfsTer29