Canonical Allele Identifier: CA2154901137
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs1891526188

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91305712_91305713del , CM000676.2:g.91305712_91305713del GRCh38
NC_000014.8:g.91772056_91772057del , CM000676.1:g.91772056_91772057del GRCh37
NC_000014.7:g.90841809_90841810del NCBI36
NG_033118.1:g.117134_117135del
NG_033118.2:g.117134_117135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.3357+54_3357+55del MANE Select ENSP00000374507.6:n.3357+54_3357+55del
ENST00000389857.10:c.3357+54_3357+55del ENSP00000374507.6:n.3357+54_3357+55del
NM_001080414.3:c.3357+54_3357+55del NP_001073883.2:n.3357+54_3357+55del
XM_005267691.3:c.3357+54_3357+55del XP_005267748.1:n.3357+54_3357+55del
XM_011536796.1:c.3249+54_3249+55del XP_011535098.1:n.3249+54_3249+55del
XR_429316.2:n.3485+54_3485+55del
XR_943459.1:n.3485+54_3485+55del
XM_005267691.5:c.3357+54_3357+55del XP_005267748.1:n.3357+54_3357+55del
XM_011536796.2:c.3249+54_3249+55del XP_011535098.1:n.3249+54_3249+55del
XM_017021335.2:c.3357+54_3357+55del XP_016876824.1:n.3357+54_3357+55del
XM_017021336.1:c.438+54_438+55del XP_016876825.1:n.438+54_438+55del
XR_429316.4:n.3483+54_3483+55del
NM_001080414.4:c.3357+54_3357+55del MANE Select NP_001073883.2:n.3357+54_3357+55del