Canonical Allele Identifier: CA2626131138

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313563-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313566del , CM000676.2:g.91313566del	GRCh38
NC_000014.8:g.91779910del , CM000676.1:g.91779910del	GRCh37
NC_000014.7:g.90849663del	NCBI36
NG_033118.1:g.109281del
NG_033118.2:g.109281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2252del MANE Select	ENSP00000374507.6:p.Gly751AlafsTer14
ENST00000389857.10:c.2252del	ENSP00000374507.6:p.Gly751AlafsTer14
NM_001080414.3:c.2252del	NP_001073883.2:p.Gly751AlafsTer14
XM_005267691.3:c.2252del	XP_005267748.1:p.Gly751AlafsTer14
XM_011536796.1:c.2144del	XP_011535098.1:p.Gly715AlafsTer14
XR_429316.2:n.2380del
XR_943459.1:n.2380del
XM_005267691.5:c.2252del	XP_005267748.1:p.Gly751AlafsTer14
XM_011536796.2:c.2144del	XP_011535098.1:p.Gly715AlafsTer14
XM_017021335.2:c.2252del	XP_016876824.1:p.Gly751AlafsTer14
XM_017021337.2:c.2252del	XP_016876826.1:p.Gly751AlafsTer14
XR_429316.4:n.2378del
NM_001080414.4:c.2252del MANE Select	NP_001073883.2:p.Gly751AlafsTer14