Canonical Allele Identifier: CA1198821606
Gene: HJV HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019936_146019937delinsCT , CM000663.2:g.146019936_146019937delinsCT GRCh38
NC_000001.10:g.145415076_145415077delinsAG , CM000663.1:g.145415076_145415077delinsAG GRCh37
NC_000001.9:g.144126433_144126434delinsAG NCBI36
NG_011568.1:g.6886_6887delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.97+198_97+199delinsAG MANE Select ENSP00000337014.5:n.97+198_97+199delinsAG
ENST00000636675.1:c.-58-203_-58-202delinsAG ENSP00000490072.1:n.-58-203_-58-202delinsAG
ENST00000336751.10:c.97+198_97+199delinsAG ENSP00000337014.5:n.97+198_97+199delinsAG
ENST00000357836.5:c.-242-203_-242-202delinsAG ENSP00000350495.5:n.-242-203_-242-202delinsAG
ENST00000421822.2:c.97+198_97+199delinsAG ENSP00000411863.2:n.97+198_97+199delinsAG
ENST00000475797.1:c.-21-1237_-21-1236delinsAG ENSP00000425716.1:n.-21-1237_-21-1236delinsAG
ENST00000497365.5:c.-58-203_-58-202delinsAG ENSP00000421820.1:n.-58-203_-58-202delinsAG
ENST00000634927.1:c.97+198_97+199delinsAG ENSP00000489347.1:n.97+198_97+199delinsAG
NM_001316767.1:c.-59+198_-59+199delinsAG NP_001303696.1:n.-59+198_-59+199delinsAG
NM_145277.4:c.-242-203_-242-202delinsAG NP_660320.3:n.-242-203_-242-202delinsAG
NM_202004.3:c.-58-203_-58-202delinsAG NP_973733.1:n.-58-203_-58-202delinsAG
NM_213652.3:c.-21-1237_-21-1236delinsAG NP_998817.1:n.-21-1237_-21-1236delinsAG
NM_213653.3:c.97+198_97+199delinsAG NP_998818.1:n.97+198_97+199delinsAG
XM_005272932.1:c.97+198_97+199delinsAG XP_005272989.1:n.97+198_97+199delinsAG
NM_001316767.2:c.-59+198_-59+199delinsAG NP_001303696.1:n.-59+198_-59+199delinsAG
NM_145277.5:c.-242-203_-242-202delinsAG NP_660320.3:n.-242-203_-242-202delinsAG
NM_202004.4:c.-58-203_-58-202delinsAG NP_973733.1:n.-58-203_-58-202delinsAG
NM_213652.4:c.-21-1237_-21-1236delinsAG NP_998817.1:n.-21-1237_-21-1236delinsAG
NM_001379352.1:c.97+198_97+199delinsAG NP_001366281.1:n.97+198_97+199delinsAG
NM_213653.4:c.97+198_97+199delinsAG MANE Select NP_998818.1:n.97+198_97+199delinsAG