Canonical Allele Identifier: CA2647575173
Gene: HJV HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146017970_146017971insA , CM000663.2:g.146017970_146017971insA GRCh38
NC_000001.10:g.145417042_145417043insT , CM000663.1:g.145417042_145417043insT GRCh37
NC_000001.9:g.144128399_144128400insT NCBI36
NG_011568.1:g.8852_8853insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.*106_*107insT MANE Select ENSP00000337014.5:n.*106_*107insT
ENST00000636675.1:c.*106_*107insT ENSP00000490072.1:n.*106_*107insT
ENST00000336751.10:c.*106_*107insT ENSP00000337014.5:n.*106_*107insT
ENST00000357836.5:c.*106_*107insT ENSP00000350495.5:n.*106_*107insT
ENST00000475797.1:c.*106_*107insT ENSP00000425716.1:n.*106_*107insT
ENST00000497365.5:c.*106_*107insT ENSP00000421820.1:n.*106_*107insT
NM_001316767.1:c.*106_*107insT NP_001303696.1:n.*106_*107insT
NM_145277.4:c.*106_*107insT NP_660320.3:n.*106_*107insT
NM_202004.3:c.*106_*107insT NP_973733.1:n.*106_*107insT
NM_213652.3:c.*106_*107insT NP_998817.1:n.*106_*107insT
NM_213653.3:c.*106_*107insT NP_998818.1:n.*106_*107insT
XM_005272932.1:c.*106_*107insT XP_005272989.1:n.*106_*107insT
NM_001316767.2:c.*106_*107insT NP_001303696.1:n.*106_*107insT
NM_145277.5:c.*106_*107insT NP_660320.3:n.*106_*107insT
NM_202004.4:c.*106_*107insT NP_973733.1:n.*106_*107insT
NM_213652.4:c.*106_*107insT NP_998817.1:n.*106_*107insT
NM_001379352.1:c.*106_*107insT NP_001366281.1:n.*106_*107insT
NM_213653.4:c.*106_*107insT MANE Select NP_998818.1:n.*106_*107insT