Canonical Allele Identifier: CA2575603436

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313242_91313249del , CM000676.2:g.91313242_91313249del	GRCh38
NC_000014.8:g.91779586_91779593del , CM000676.1:g.91779586_91779593del	GRCh37
NC_000014.7:g.90849339_90849346del	NCBI36
NG_033118.1:g.109598_109605del
NG_033118.2:g.109598_109605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2569_2576del MANE Select	ENSP00000374507.6:p.Asp857CysfsTer7
ENST00000389857.10:c.2569_2576del	ENSP00000374507.6:p.Asp857CysfsTer7
NM_001080414.3:c.2569_2576del	NP_001073883.2:p.Asp857CysfsTer7
XM_005267691.3:c.2569_2576del	XP_005267748.1:p.Asp857CysfsTer7
XM_011536796.1:c.2461_2468del	XP_011535098.1:p.Asp821CysfsTer7
XR_429316.2:n.2697_2704del
XR_943459.1:n.2697_2704del
XM_005267691.5:c.2569_2576del	XP_005267748.1:p.Asp857CysfsTer7
XM_011536796.2:c.2461_2468del	XP_011535098.1:p.Asp821CysfsTer7
XM_017021335.2:c.2569_2576del	XP_016876824.1:p.Asp857CysfsTer7
XM_017021337.2:c.2569_2576del	XP_016876826.1:p.Asp857CysfsTer7
XR_429316.4:n.2695_2702del
NM_001080414.4:c.2569_2576del MANE Select	NP_001073883.2:p.Asp857CysfsTer7