Canonical Allele Identifier: CA2730191311
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs2140902601

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272338_91272341del , CM000676.2:g.91272338_91272341del GRCh38
NC_000014.8:g.91738682_91738685del , CM000676.1:g.91738682_91738685del GRCh37
NC_000014.7:g.90808435_90808438del NCBI36
NG_033118.1:g.150506_150509del
NG_033118.2:g.150506_150509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*286_*289del MANE Select ENSP00000374507.6:n.*286_*289del
ENST00000331194.8:c.*286_*289del ENSP00000330332.8:n.*286_*289del
ENST00000389857.10:c.*286_*289del ENSP00000374507.6:n.*286_*289del
ENST00000556726.5:c.2601_2604del
NM_001080414.3:c.*286_*289del NP_001073883.2:n.*286_*289del
XM_011536796.1:c.*286_*289del XP_011535098.1:n.*286_*289del
XM_011536796.2:c.*286_*289del XP_011535098.1:n.*286_*289del
XM_017021336.1:c.*286_*289del XP_016876825.1:n.*286_*289del
NM_001080414.4:c.*286_*289del MANE Select NP_001073883.2:n.*286_*289del