Canonical Allele Identifier: CA2626131089

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313513-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313516_91313517dup , CM000676.2:g.91313516_91313517dup	GRCh38
NC_000014.8:g.91779860_91779861dup , CM000676.1:g.91779860_91779861dup	GRCh37
NC_000014.7:g.90849613_90849614dup	NCBI36
NG_033118.1:g.109330_109331dup
NG_033118.2:g.109330_109331dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2301_2302dup MANE Select	ENSP00000374507.6:p.Asn768ArgfsTer?
ENST00000389857.10:c.2301_2302dup	ENSP00000374507.6:p.Asn768ArgfsTer?
NM_001080414.3:c.2301_2302dup	NP_001073883.2:p.Asn768ArgfsTer?
XM_005267691.3:c.2301_2302dup	XP_005267748.1:p.Asn768ArgfsTer?
XM_011536796.1:c.2193_2194dup	XP_011535098.1:p.Asn732ArgfsTer?
XR_429316.2:n.2429_2430dup
XR_943459.1:n.2429_2430dup
XM_005267691.5:c.2301_2302dup	XP_005267748.1:p.Asn768ArgfsTer?
XM_011536796.2:c.2193_2194dup	XP_011535098.1:p.Asn732ArgfsTer?
XM_017021335.2:c.2301_2302dup	XP_016876824.1:p.Asn768ArgfsTer?
XM_017021337.2:c.2301_2302dup	XP_016876826.1:p.Asn768ArgfsTer?
XR_429316.4:n.2427_2428dup
NM_001080414.4:c.2301_2302dup MANE Select	NP_001073883.2:p.Asn768ArgfsTer?