Canonical Allele Identifier: CA1198821243
Gene: HJV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019146_146019147delinsTG , CM000663.2:g.146019146_146019147delinsTG GRCh38
NC_000001.10:g.145415866_145415867delinsCA , CM000663.1:g.145415866_145415867delinsCA GRCh37
NC_000001.9:g.144127223_144127224delinsCA NCBI36
NG_011568.1:g.7676_7677delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.657+28_657+29delinsCA MANE Select ENSP00000337014.5:n.657+28_657+29delinsCA
ENST00000636675.1:c.-21-447_-21-446delinsCA ENSP00000490072.1:n.-21-447_-21-446delinsCA
ENST00000336751.10:c.657+28_657+29delinsCA ENSP00000337014.5:n.657+28_657+29delinsCA
ENST00000357836.5:c.318+28_318+29delinsCA ENSP00000350495.5:n.318+28_318+29delinsCA
ENST00000475797.1:c.-21-447_-21-446delinsCA ENSP00000425716.1:n.-21-447_-21-446delinsCA
ENST00000497365.5:c.-21-447_-21-446delinsCA ENSP00000421820.1:n.-21-447_-21-446delinsCA
ENST00000634927.1:c.135-447_135-446delinsCA ENSP00000489347.1:n.135-447_135-446delinsCA
NM_001316767.1:c.-21-447_-21-446delinsCA NP_001303696.1:n.-21-447_-21-446delinsCA
NM_145277.4:c.318+28_318+29delinsCA NP_660320.3:n.318+28_318+29delinsCA
NM_202004.3:c.-21-447_-21-446delinsCA NP_973733.1:n.-21-447_-21-446delinsCA
NM_213652.3:c.-21-447_-21-446delinsCA NP_998817.1:n.-21-447_-21-446delinsCA
NM_213653.3:c.657+28_657+29delinsCA NP_998818.1:n.657+28_657+29delinsCA
XM_005272932.1:c.657+28_657+29delinsCA XP_005272989.1:n.657+28_657+29delinsCA
NM_001316767.2:c.-21-447_-21-446delinsCA NP_001303696.1:n.-21-447_-21-446delinsCA
NM_145277.5:c.318+28_318+29delinsCA NP_660320.3:n.318+28_318+29delinsCA
NM_202004.4:c.-21-447_-21-446delinsCA NP_973733.1:n.-21-447_-21-446delinsCA
NM_213652.4:c.-21-447_-21-446delinsCA NP_998817.1:n.-21-447_-21-446delinsCA
NM_001379352.1:c.657+28_657+29delinsCA NP_001366281.1:n.657+28_657+29delinsCA
NM_213653.4:c.657+28_657+29delinsCA MANE Select NP_998818.1:n.657+28_657+29delinsCA