Canonical Allele Identifier: CA1198820774
Gene: HJV HGNC NCBI

Linked Data

dbSNP Id: rs1652429070

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146017916_146017917dup , CM000663.2:g.146017916_146017917dup GRCh38
NC_000001.10:g.145417098_145417099dup , CM000663.1:g.145417098_145417099dup GRCh37
NC_000001.9:g.144128455_144128456dup NCBI36
NG_011568.1:g.8908_8909dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.*162_*163dup MANE Select ENSP00000337014.5:n.*162_*163dup
ENST00000636675.1:c.*162_*163dup ENSP00000490072.1:n.*162_*163dup
ENST00000336751.10:c.*162_*163dup ENSP00000337014.5:n.*162_*163dup
ENST00000357836.5:c.*162_*163dup ENSP00000350495.5:n.*162_*163dup
ENST00000475797.1:c.*162_*163dup ENSP00000425716.1:n.*162_*163dup
ENST00000497365.5:c.*162_*163dup ENSP00000421820.1:n.*162_*163dup
NM_001316767.1:c.*162_*163dup NP_001303696.1:n.*162_*163dup
NM_145277.4:c.*162_*163dup NP_660320.3:n.*162_*163dup
NM_202004.3:c.*162_*163dup NP_973733.1:n.*162_*163dup
NM_213652.3:c.*162_*163dup NP_998817.1:n.*162_*163dup
NM_213653.3:c.*162_*163dup NP_998818.1:n.*162_*163dup
XM_005272932.1:c.*162_*163dup XP_005272989.1:n.*162_*163dup
NM_001316767.2:c.*162_*163dup NP_001303696.1:n.*162_*163dup
NM_145277.5:c.*162_*163dup NP_660320.3:n.*162_*163dup
NM_202004.4:c.*162_*163dup NP_973733.1:n.*162_*163dup
NM_213652.4:c.*162_*163dup NP_998817.1:n.*162_*163dup
NM_001379352.1:c.*162_*163dup NP_001366281.1:n.*162_*163dup
NM_213653.4:c.*162_*163dup MANE Select NP_998818.1:n.*162_*163dup