Canonical Allele Identifier: CA1198821589
Gene: HJV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019900_146019904delinsGCTGT , CM000663.2:g.146019900_146019904delinsGCTGT GRCh38
NC_000001.10:g.145415109_145415113delinsACAGC , CM000663.1:g.145415109_145415113delinsACAGC GRCh37
NC_000001.9:g.144126466_144126470delinsACAGC NCBI36
NG_011568.1:g.6919_6923delinsACAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.98-170_98-166delinsACAGC MANE Select ENSP00000337014.5:n.98-170_98-166delinsACAGC
ENST00000636675.1:c.-58-170_-58-166delinsACAGC ENSP00000490072.1:n.-58-170_-58-166delinsACAGC
ENST00000336751.10:c.98-170_98-166delinsACAGC ENSP00000337014.5:n.98-170_98-166delinsACAGC
ENST00000357836.5:c.-242-170_-242-166delinsACAGC ENSP00000350495.5:n.-242-170_-242-166delinsACAGC
ENST00000421822.2:c.98-170_98-166delinsACAGC ENSP00000411863.2:n.98-170_98-166delinsACAGC
ENST00000475797.1:c.-21-1204_-21-1200delinsACAGC ENSP00000425716.1:n.-21-1204_-21-1200delinsACAGC
ENST00000497365.5:c.-58-170_-58-166delinsACAGC ENSP00000421820.1:n.-58-170_-58-166delinsACAGC
ENST00000634927.1:c.98-170_98-166delinsACAGC ENSP00000489347.1:n.98-170_98-166delinsACAGC
NM_001316767.1:c.-58-170_-58-166delinsACAGC NP_001303696.1:n.-58-170_-58-166delinsACAGC
NM_145277.4:c.-242-170_-242-166delinsACAGC NP_660320.3:n.-242-170_-242-166delinsACAGC
NM_202004.3:c.-58-170_-58-166delinsACAGC NP_973733.1:n.-58-170_-58-166delinsACAGC
NM_213652.3:c.-21-1204_-21-1200delinsACAGC NP_998817.1:n.-21-1204_-21-1200delinsACAGC
NM_213653.3:c.98-170_98-166delinsACAGC NP_998818.1:n.98-170_98-166delinsACAGC
XM_005272932.1:c.98-170_98-166delinsACAGC XP_005272989.1:n.98-170_98-166delinsACAGC
NM_001316767.2:c.-58-170_-58-166delinsACAGC NP_001303696.1:n.-58-170_-58-166delinsACAGC
NM_145277.5:c.-242-170_-242-166delinsACAGC NP_660320.3:n.-242-170_-242-166delinsACAGC
NM_202004.4:c.-58-170_-58-166delinsACAGC NP_973733.1:n.-58-170_-58-166delinsACAGC
NM_213652.4:c.-21-1204_-21-1200delinsACAGC NP_998817.1:n.-21-1204_-21-1200delinsACAGC
NM_001379352.1:c.98-170_98-166delinsACAGC NP_001366281.1:n.98-170_98-166delinsACAGC
NM_213653.4:c.98-170_98-166delinsACAGC MANE Select NP_998818.1:n.98-170_98-166delinsACAGC