Canonical Allele Identifier: CA2154878989

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313519_91313525delinsGCGCTCA , CM000676.2:g.91313519_91313525delinsGCGCTCA	GRCh38
NC_000014.8:g.91779863_91779869delinsGCGCTCA , CM000676.1:g.91779863_91779869delinsGCGCTCA	GRCh37
NC_000014.7:g.90849616_90849622delinsGCGCTCA	NCBI36
NG_033118.1:g.109320_109326delinsTGAGCGC
NG_033118.2:g.109320_109326delinsTGAGCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2291_2297delinsTGAGCGC MANE Select	ENSP00000374507.6:p.Val764=
ENST00000389857.10:c.2291_2297delinsTGAGCGC	ENSP00000374507.6:p.Val764=
NM_001080414.3:c.2291_2297delinsTGAGCGC	NP_001073883.2:p.Val764=
XM_005267691.3:c.2291_2297delinsTGAGCGC	XP_005267748.1:p.Val764=
XM_011536796.1:c.2183_2189delinsTGAGCGC	XP_011535098.1:p.Val728=
XR_429316.2:n.2419_2425delinsTGAGCGC
XR_943459.1:n.2419_2425delinsTGAGCGC
XM_005267691.5:c.2291_2297delinsTGAGCGC	XP_005267748.1:p.Val764=
XM_011536796.2:c.2183_2189delinsTGAGCGC	XP_011535098.1:p.Val728=
XM_017021335.2:c.2291_2297delinsTGAGCGC	XP_016876824.1:p.Val764=
XM_017021337.2:c.2291_2297delinsTGAGCGC	XP_016876826.1:p.Val764=
XR_429316.4:n.2417_2423delinsTGAGCGC
NM_001080414.4:c.2291_2297delinsTGAGCGC MANE Select	NP_001073883.2:p.Val764=