Canonical Allele Identifier: CA2802580901
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272343_91272345del , CM000676.2:g.91272343_91272345del GRCh38
NC_000014.8:g.91738687_91738689del , CM000676.1:g.91738687_91738689del GRCh37
NC_000014.7:g.90808440_90808442del NCBI36
NG_033118.1:g.150500_150502del
NG_033118.2:g.150500_150502del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*280_*282del MANE Select ENSP00000374507.6:n.*280_*282del
ENST00000331194.8:c.*280_*282del ENSP00000330332.8:n.*280_*282del
ENST00000389857.10:c.*280_*282del ENSP00000374507.6:n.*280_*282del
ENST00000556726.5:c.2595_2597del
NM_001080414.3:c.*280_*282del NP_001073883.2:n.*280_*282del
XM_011536796.1:c.*280_*282del XP_011535098.1:n.*280_*282del
XM_011536796.2:c.*280_*282del XP_011535098.1:n.*280_*282del
XM_017021336.1:c.*280_*282del XP_016876825.1:n.*280_*282del
NM_001080414.4:c.*280_*282del MANE Select NP_001073883.2:n.*280_*282del