Canonical Allele Identifier: CA2647575483
Gene: HJV HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018701_146018702insG , CM000663.2:g.146018701_146018702insG GRCh38
NC_000001.10:g.145416311_145416312insC , CM000663.1:g.145416311_145416312insC GRCh37
NC_000001.9:g.144127668_144127669insC NCBI36
NG_011568.1:g.8121_8122insC

Transcript Alleles

HGVS Amino-acid change
ENST00000336751.11:c.658-2_658-1insC MANE Select ENSP00000337014.5:n.658-2_658-1insC
ENST00000636675.1:c.-21-2_-21-1insC ENSP00000490072.1:n.-21-2_-21-1insC
ENST00000336751.10:c.658-2_658-1insC ENSP00000337014.5:n.658-2_658-1insC
ENST00000357836.5:c.319-2_319-1insC ENSP00000350495.5:n.319-2_319-1insC
ENST00000475797.1:c.-21-2_-21-1insC ENSP00000425716.1:n.-21-2_-21-1insC
ENST00000497365.5:c.-21-2_-21-1insC ENSP00000421820.1:n.-21-2_-21-1insC
ENST00000634927.1:c.135-2_135-1insC ENSP00000489347.1:n.135-2_135-1insC
NM_001316767.1:c.-21-2_-21-1insC NP_001303696.1:n.-21-2_-21-1insC
NM_145277.4:c.319-2_319-1insC NP_660320.3:n.319-2_319-1insC
NM_202004.3:c.-21-2_-21-1insC NP_973733.1:n.-21-2_-21-1insC
NM_213652.3:c.-21-2_-21-1insC NP_998817.1:n.-21-2_-21-1insC
NM_213653.3:c.658-2_658-1insC NP_998818.1:n.658-2_658-1insC
XM_005272932.1:c.658-2_658-1insC XP_005272989.1:n.658-2_658-1insC
NM_001316767.2:c.-21-2_-21-1insC NP_001303696.1:n.-21-2_-21-1insC
NM_145277.5:c.319-2_319-1insC NP_660320.3:n.319-2_319-1insC
NM_202004.4:c.-21-2_-21-1insC NP_973733.1:n.-21-2_-21-1insC
NM_213652.4:c.-21-2_-21-1insC NP_998817.1:n.-21-2_-21-1insC
NM_001379352.1:c.658-2_658-1insC NP_001366281.1:n.658-2_658-1insC
NM_213653.4:c.658-2_658-1insC MANE Select NP_998818.1:n.658-2_658-1insC