Canonical Allele Identifier: CA2154912545
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91337892_91337893delinsCT , CM000676.2:g.91337892_91337893delinsCT GRCh38
NC_000014.8:g.91804236_91804237delinsCT , CM000676.1:g.91804236_91804237delinsCT GRCh37
NC_000014.7:g.90873989_90873990delinsCT NCBI36
NG_033118.1:g.84952_84953delinsAG
NG_033118.2:g.84952_84953delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.1050+112_1050+113delinsAG MANE Select ENSP00000374507.6:n.1050+112_1050+113delinsAG
ENST00000389857.10:c.1050+112_1050+113delinsAG ENSP00000374507.6:n.1050+112_1050+113delinsAG
NM_001080414.3:c.1050+112_1050+113delinsAG NP_001073883.2:n.1050+112_1050+113delinsAG
XM_005267691.3:c.1050+112_1050+113delinsAG XP_005267748.1:n.1050+112_1050+113delinsAG
XM_011536796.1:c.942+112_942+113delinsAG XP_011535098.1:n.942+112_942+113delinsAG
XR_429316.2:n.1178+112_1178+113delinsAG
XR_943459.1:n.1178+112_1178+113delinsAG
XM_005267691.5:c.1050+112_1050+113delinsAG XP_005267748.1:n.1050+112_1050+113delinsAG
XM_011536796.2:c.942+112_942+113delinsAG XP_011535098.1:n.942+112_942+113delinsAG
XM_017021335.2:c.1050+112_1050+113delinsAG XP_016876824.1:n.1050+112_1050+113delinsAG
XM_017021337.2:c.1050+112_1050+113delinsAG XP_016876826.1:n.1050+112_1050+113delinsAG
XR_429316.4:n.1176+112_1176+113delinsAG
NM_001080414.4:c.1050+112_1050+113delinsAG MANE Select NP_001073883.2:n.1050+112_1050+113delinsAG