Canonical Allele Identifier: CA2626125265

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279238-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279242del , CM000676.2:g.91279242del	GRCh38
NC_000014.8:g.91745586del , CM000676.1:g.91745586del	GRCh37
NC_000014.7:g.90815339del	NCBI36
NG_033118.1:g.143606del
NG_033118.2:g.143606del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4767del MANE Select	ENSP00000374507.6:p.Gly1590AlafsTer18
ENST00000331194.8:c.339del	ENSP00000330332.8:p.Gly114AlafsTer18
ENST00000334448.5:n.579del
ENST00000389857.10:c.4767del	ENSP00000374507.6:p.Gly1590AlafsTer18
ENST00000556726.5:c.995del
ENST00000557455.1:n.739del
NM_001080414.3:c.4767del	NP_001073883.2:p.Gly1590AlafsTer18
XM_011536796.1:c.4659del	XP_011535098.1:p.Gly1554AlafsTer18
XR_429316.2:n.5042del
XM_011536796.2:c.4659del	XP_011535098.1:p.Gly1554AlafsTer18
XM_017021336.1:c.1848del	XP_016876825.1:p.Gly617AlafsTer18
XR_429316.4:n.5040del
NM_001080414.4:c.4767del MANE Select	NP_001073883.2:p.Gly1590AlafsTer18