Canonical Allele Identifier: CA2154901142
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91305712_91305713delinsCA , CM000676.2:g.91305712_91305713delinsCA GRCh38
NC_000014.8:g.91772056_91772057delinsCA , CM000676.1:g.91772056_91772057delinsCA GRCh37
NC_000014.7:g.90841809_90841810delinsCA NCBI36
NG_033118.1:g.117132_117133delinsTG
NG_033118.2:g.117132_117133delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.3357+52_3357+53delinsTG MANE Select ENSP00000374507.6:n.3357+52_3357+53delinsTG
ENST00000389857.10:c.3357+52_3357+53delinsTG ENSP00000374507.6:n.3357+52_3357+53delinsTG
NM_001080414.3:c.3357+52_3357+53delinsTG NP_001073883.2:n.3357+52_3357+53delinsTG
XM_005267691.3:c.3357+52_3357+53delinsTG XP_005267748.1:n.3357+52_3357+53delinsTG
XM_011536796.1:c.3249+52_3249+53delinsTG XP_011535098.1:n.3249+52_3249+53delinsTG
XR_429316.2:n.3485+52_3485+53delinsTG
XR_943459.1:n.3485+52_3485+53delinsTG
XM_005267691.5:c.3357+52_3357+53delinsTG XP_005267748.1:n.3357+52_3357+53delinsTG
XM_011536796.2:c.3249+52_3249+53delinsTG XP_011535098.1:n.3249+52_3249+53delinsTG
XM_017021335.2:c.3357+52_3357+53delinsTG XP_016876824.1:n.3357+52_3357+53delinsTG
XM_017021336.1:c.438+52_438+53delinsTG XP_016876825.1:n.438+52_438+53delinsTG
XR_429316.4:n.3483+52_3483+53delinsTG
NM_001080414.4:c.3357+52_3357+53delinsTG MANE Select NP_001073883.2:n.3357+52_3357+53delinsTG