Canonical Allele Identifier: CA2575603437

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313354_91313366del , CM000676.2:g.91313354_91313366del	GRCh38
NC_000014.8:g.91779698_91779710del , CM000676.1:g.91779698_91779710del	GRCh37
NC_000014.7:g.90849451_90849463del	NCBI36
NG_033118.1:g.109479_109491del
NG_033118.2:g.109479_109491del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2450_2462del MANE Select	ENSP00000374507.6:p.Glu817GlyfsTer?
ENST00000389857.10:c.2450_2462del	ENSP00000374507.6:p.Glu817GlyfsTer?
NM_001080414.3:c.2450_2462del	NP_001073883.2:p.Glu817GlyfsTer?
XM_005267691.3:c.2450_2462del	XP_005267748.1:p.Glu817GlyfsTer?
XM_011536796.1:c.2342_2354del	XP_011535098.1:p.Glu781GlyfsTer?
XR_429316.2:n.2578_2590del
XR_943459.1:n.2578_2590del
XM_005267691.5:c.2450_2462del	XP_005267748.1:p.Glu817GlyfsTer?
XM_011536796.2:c.2342_2354del	XP_011535098.1:p.Glu781GlyfsTer?
XM_017021335.2:c.2450_2462del	XP_016876824.1:p.Glu817GlyfsTer?
XM_017021337.2:c.2450_2462del	XP_016876826.1:p.Glu817GlyfsTer?
XR_429316.4:n.2576_2588del
NM_001080414.4:c.2450_2462del MANE Select	NP_001073883.2:p.Glu817GlyfsTer?