Canonical Allele Identifier: CA1139771318

Gene: HJV

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019450dup , CM000663.2:g.146019450dup	GRCh38
NC_000001.10:g.145415567dup , CM000663.1:g.145415567dup	GRCh37
NC_000001.9:g.144126924dup	NCBI36
NG_011568.1:g.7377dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.386dup MANE Select	ENSP00000337014.5:p.Pro130AlafsTer20
ENST00000636675.1:c.-22+252dup	ENSP00000490072.1:n.-22+252dup
ENST00000336751.10:c.386dup	ENSP00000337014.5:p.Pro130AlafsTer20
ENST00000357836.5:c.47dup	ENSP00000350495.5:p.Pro17AlafsTer20
ENST00000475797.1:c.-21-746dup	ENSP00000425716.1:n.-21-746dup
ENST00000497365.5:c.-22+252dup	ENSP00000421820.1:n.-22+252dup
ENST00000634927.1:c.134+252dup	ENSP00000489347.1:n.134+252dup
NM_001316767.1:c.-22+252dup	NP_001303696.1:n.-22+252dup
NM_145277.4:c.47dup	NP_660320.3:p.Pro17AlafsTer20
NM_202004.3:c.-22+252dup	NP_973733.1:n.-22+252dup
NM_213652.3:c.-21-746dup	NP_998817.1:n.-21-746dup
NM_213653.3:c.386dup	NP_998818.1:p.Pro130AlafsTer20
XM_005272932.1:c.386dup	XP_005272989.1:p.Pro130AlafsTer20
NM_001316767.2:c.-22+252dup	NP_001303696.1:n.-22+252dup
NM_145277.5:c.47dup	NP_660320.3:p.Pro17AlafsTer20
NM_202004.4:c.-22+252dup	NP_973733.1:n.-22+252dup
NM_213652.4:c.-21-746dup	NP_998817.1:n.-21-746dup
NM_001379352.1:c.386dup	NP_001366281.1:p.Pro130AlafsTer20
NM_213653.4:c.386dup MANE Select	NP_998818.1:p.Pro130AlafsTer20