Canonical Allele Identifier: CA2626131139

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313592-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313594del , CM000676.2:g.91313594del	GRCh38
NC_000014.8:g.91779938del , CM000676.1:g.91779938del	GRCh37
NC_000014.7:g.90849691del	NCBI36
NG_033118.1:g.109252del
NG_033118.2:g.109252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2223del MANE Select	ENSP00000374507.6:p.Lys742ArgfsTer23
ENST00000389857.10:c.2223del	ENSP00000374507.6:p.Lys742ArgfsTer23
NM_001080414.3:c.2223del	NP_001073883.2:p.Lys742ArgfsTer23
XM_005267691.3:c.2223del	XP_005267748.1:p.Lys742ArgfsTer23
XM_011536796.1:c.2115del	XP_011535098.1:p.Lys706ArgfsTer23
XR_429316.2:n.2351del
XR_943459.1:n.2351del
XM_005267691.5:c.2223del	XP_005267748.1:p.Lys742ArgfsTer23
XM_011536796.2:c.2115del	XP_011535098.1:p.Lys706ArgfsTer23
XM_017021335.2:c.2223del	XP_016876824.1:p.Lys742ArgfsTer23
XM_017021337.2:c.2223del	XP_016876826.1:p.Lys742ArgfsTer23
XR_429316.4:n.2349del
NM_001080414.4:c.2223del MANE Select	NP_001073883.2:p.Lys742ArgfsTer23