Canonical Allele Identifier: CA2154878496

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1891917794

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313230_91313231del , CM000676.2:g.91313230_91313231del	GRCh38
NC_000014.8:g.91779574_91779575del , CM000676.1:g.91779574_91779575del	GRCh37
NC_000014.7:g.90849327_90849328del	NCBI36
NG_033118.1:g.109615_109616del
NG_033118.2:g.109615_109616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2586_2587del MANE Select	ENSP00000374507.6:p.Ser863ArgfsTer3
ENST00000389857.10:c.2586_2587del	ENSP00000374507.6:p.Ser863ArgfsTer3
NM_001080414.3:c.2586_2587del	NP_001073883.2:p.Ser863ArgfsTer3
XM_005267691.3:c.2586_2587del	XP_005267748.1:p.Ser863ArgfsTer3
XM_011536796.1:c.2478_2479del	XP_011535098.1:p.Ser827ArgfsTer3
XR_429316.2:n.2714_2715del
XR_943459.1:n.2714_2715del
XM_005267691.5:c.2586_2587del	XP_005267748.1:p.Ser863ArgfsTer3
XM_011536796.2:c.2478_2479del	XP_011535098.1:p.Ser827ArgfsTer3
XM_017021335.2:c.2586_2587del	XP_016876824.1:p.Ser863ArgfsTer3
XM_017021337.2:c.2586_2587del	XP_016876826.1:p.Ser863ArgfsTer3
XR_429316.4:n.2712_2713del
NM_001080414.4:c.2586_2587del MANE Select	NP_001073883.2:p.Ser863ArgfsTer3