Canonical Allele Identifier: CA7309624

Gene: CCDC88C

Linked Data

• dbSNP Id: rs757896710
• ExAC: 14:91779617 ACCTGCTGCC / A
• gnomAD v2: 14-91779617-ACCTGCTGCC-A
• gnomAD v4: 14-91313273-ACCTGCTGCC-A
• MyVariant Identifiers: chr14:g.91779618_91779626del (hg19) ; chr14:g.91313274_91313282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313274_91313282del , CM000676.2:g.91313274_91313282del	GRCh38
NC_000014.8:g.91779618_91779626del , CM000676.1:g.91779618_91779626del	GRCh37
NC_000014.7:g.90849371_90849379del	NCBI36
NG_033118.1:g.109563_109571del
NG_033118.2:g.109563_109571del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2534_2542del MANE Select	ENSP00000374507.6:p.Trp845_Val848delinsLeu
ENST00000389857.10:c.2534_2542del	ENSP00000374507.6:p.Trp845_Val848delinsLeu
NM_001080414.3:c.2534_2542del	NP_001073883.2:p.Trp845_Val848delinsLeu
XM_005267691.3:c.2534_2542del	XP_005267748.1:p.Trp845_Val848delinsLeu
XM_011536796.1:c.2426_2434del	XP_011535098.1:p.Trp809_Val812delinsLeu
XR_429316.2:n.2662_2670del
XR_943459.1:n.2662_2670del
XM_005267691.5:c.2534_2542del	XP_005267748.1:p.Trp845_Val848delinsLeu
XM_011536796.2:c.2426_2434del	XP_011535098.1:p.Trp809_Val812delinsLeu
XM_017021335.2:c.2534_2542del	XP_016876824.1:p.Trp845_Val848delinsLeu
XM_017021337.2:c.2534_2542del	XP_016876826.1:p.Trp845_Val848delinsLeu
XR_429316.4:n.2660_2668del
NM_001080414.4:c.2534_2542del MANE Select	NP_001073883.2:p.Trp845_Val848delinsLeu