Canonical Allele Identifier: CA2802580905
Gene: CCDC88C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272372_91272373insGCAA , CM000676.2:g.91272372_91272373insGCAA GRCh38
NC_000014.8:g.91738716_91738717insGCAA , CM000676.1:g.91738716_91738717insGCAA GRCh37
NC_000014.7:g.90808469_90808470insGCAA NCBI36
NG_033118.1:g.150472_150473insTTGC
NG_033118.2:g.150472_150473insTTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*252_*253insTTGC MANE Select ENSP00000374507.6:n.*252_*253insTTGC
ENST00000331194.8:c.*252_*253insTTGC ENSP00000330332.8:n.*252_*253insTTGC
ENST00000389857.10:c.*252_*253insTTGC ENSP00000374507.6:n.*252_*253insTTGC
ENST00000556726.5:c.2567_2568insTTGC
NM_001080414.3:c.*252_*253insTTGC NP_001073883.2:n.*252_*253insTTGC
XM_011536796.1:c.*252_*253insTTGC XP_011535098.1:n.*252_*253insTTGC
XM_011536796.2:c.*252_*253insTTGC XP_011535098.1:n.*252_*253insTTGC
XM_017021336.1:c.*252_*253insTTGC XP_016876825.1:n.*252_*253insTTGC
NM_001080414.4:c.*252_*253insTTGC MANE Select NP_001073883.2:n.*252_*253insTTGC