Canonical Allele Identifier: CA2802582090

Gene: CCDC88C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313641_91313670del , CM000676.2:g.91313641_91313670del	GRCh38
NC_000014.8:g.91779985_91780014del , CM000676.1:g.91779985_91780014del	GRCh37
NC_000014.7:g.90849738_90849767del	NCBI36
NG_033118.1:g.109178_109207del
NG_033118.2:g.109178_109207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2149_2178del MANE Select	ENSP00000374507.6:p.Arg717_Met726del
ENST00000389857.10:c.2149_2178del	ENSP00000374507.6:p.Arg717_Met726del
NM_001080414.3:c.2149_2178del	NP_001073883.2:p.Arg717_Met726del
XM_005267691.3:c.2149_2178del	XP_005267748.1:p.Arg717_Met726del
XM_011536796.1:c.2041_2070del	XP_011535098.1:p.Arg681_Met690del
XR_429316.2:n.2277_2306del
XR_943459.1:n.2277_2306del
XM_005267691.5:c.2149_2178del	XP_005267748.1:p.Arg717_Met726del
XM_011536796.2:c.2041_2070del	XP_011535098.1:p.Arg681_Met690del
XM_017021335.2:c.2149_2178del	XP_016876824.1:p.Arg717_Met726del
XM_017021337.2:c.2149_2178del	XP_016876826.1:p.Arg717_Met726del
XR_429316.4:n.2275_2304del
NM_001080414.4:c.2149_2178del MANE Select	NP_001073883.2:p.Arg717_Met726del