Canonical Allele Identifier: CA2626126653
Gene: CCDC88C HGNC NCBI

Linked Data

gnomAD v4: 14-91272336-GTT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272338_91272339del , CM000676.2:g.91272338_91272339del GRCh38
NC_000014.8:g.91738682_91738683del , CM000676.1:g.91738682_91738683del GRCh37
NC_000014.7:g.90808435_90808436del NCBI36
NG_033118.1:g.150507_150508del
NG_033118.2:g.150507_150508del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*287_*288del MANE Select ENSP00000374507.6:n.*287_*288del
ENST00000331194.8:c.*287_*288del ENSP00000330332.8:n.*287_*288del
ENST00000389857.10:c.*287_*288del ENSP00000374507.6:n.*287_*288del
ENST00000556726.5:c.2602_2603del
NM_001080414.3:c.*287_*288del NP_001073883.2:n.*287_*288del
XM_011536796.1:c.*287_*288del XP_011535098.1:n.*287_*288del
XM_011536796.2:c.*287_*288del XP_011535098.1:n.*287_*288del
XM_017021336.1:c.*287_*288del XP_016876825.1:n.*287_*288del
NM_001080414.4:c.*287_*288del MANE Select NP_001073883.2:n.*287_*288del
Search 100 bp 5'
Search 100 bp 3'