Canonical Allele Identifier: CA7309382

Gene: CCDC88C

Linked Data

• dbSNP Id: rs780397415
• ExAC: 14:91772096 G / GCACA
• gnomAD v2: 14-91772096-G-GCACA
• gnomAD v3: 14-91305752-G-GCACA
• gnomAD v4: 14-91305752-G-GCACA
• MyVariant Identifiers: chr14:g.91772096_91772097insCACA (hg19) ; chr14:g.91305752_91305753insCACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305752_91305753insCACA , CM000676.2:g.91305752_91305753insCACA	GRCh38
NC_000014.8:g.91772096_91772097insCACA , CM000676.1:g.91772096_91772097insCACA	GRCh37
NC_000014.7:g.90841849_90841850insCACA	NCBI36
NG_033118.1:g.117092_117093insTGTG
NG_033118.2:g.117092_117093insTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3357+12_3357+13insTGTG MANE Select	ENSP00000374507.6:n.3357+12_3357+13insTGTG
ENST00000389857.10:c.3357+12_3357+13insTGTG	ENSP00000374507.6:n.3357+12_3357+13insTGTG
NM_001080414.3:c.3357+12_3357+13insTGTG	NP_001073883.2:n.3357+12_3357+13insTGTG
XM_005267691.3:c.3357+12_3357+13insTGTG	XP_005267748.1:n.3357+12_3357+13insTGTG
XM_011536796.1:c.3249+12_3249+13insTGTG	XP_011535098.1:n.3249+12_3249+13insTGTG
XR_429316.2:n.3485+12_3485+13insTGTG
XR_943459.1:n.3485+12_3485+13insTGTG
XM_005267691.5:c.3357+12_3357+13insTGTG	XP_005267748.1:n.3357+12_3357+13insTGTG
XM_011536796.2:c.3249+12_3249+13insTGTG	XP_011535098.1:n.3249+12_3249+13insTGTG
XM_017021335.2:c.3357+12_3357+13insTGTG	XP_016876824.1:n.3357+12_3357+13insTGTG
XM_017021336.1:c.438+12_438+13insTGTG	XP_016876825.1:n.438+12_438+13insTGTG
XR_429316.4:n.3483+12_3483+13insTGTG
NM_001080414.4:c.3357+12_3357+13insTGTG MANE Select	NP_001073883.2:n.3357+12_3357+13insTGTG