Canonical Allele Identifier: CA2580613740

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2501101
• ClinVar RCV Id: RCV003226698

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305822_91305823del , CM000676.2:g.91305822_91305823del	GRCh38
NC_000014.8:g.91772166_91772167del , CM000676.1:g.91772166_91772167del	GRCh37
NC_000014.7:g.90841919_90841920del	NCBI36
NG_033118.1:g.117024_117025del
NG_033118.2:g.117024_117025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3301_3302del MANE Select	ENSP00000374507.6:p.Ser1101ArgfsTer?
ENST00000389857.10:c.3301_3302del	ENSP00000374507.6:p.Ser1101ArgfsTer?
NM_001080414.3:c.3301_3302del	NP_001073883.2:p.Ser1101ArgfsTer?
XM_005267691.3:c.3301_3302del	XP_005267748.1:p.Ser1101ArgfsTer?
XM_011536796.1:c.3193_3194del	XP_011535098.1:p.Ser1065ArgfsTer?
XR_429316.2:n.3429_3430del
XR_943459.1:n.3429_3430del
XM_005267691.5:c.3301_3302del	XP_005267748.1:p.Ser1101ArgfsTer?
XM_011536796.2:c.3193_3194del	XP_011535098.1:p.Ser1065ArgfsTer?
XM_017021335.2:c.3301_3302del	XP_016876824.1:p.Ser1101ArgfsTer?
XM_017021336.1:c.382_383del	XP_016876825.1:p.Ser128ArgfsTer?
XR_429316.4:n.3427_3428del
NM_001080414.4:c.3301_3302del MANE Select	NP_001073883.2:p.Ser1101ArgfsTer?