Canonical Allele Identifier: CA2626123436

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273495-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273495_91273496insC , CM000676.2:g.91273495_91273496insC	GRCh38
NC_000014.8:g.91739839_91739840insC , CM000676.1:g.91739839_91739840insC	GRCh37
NC_000014.7:g.90809592_90809593insC	NCBI36
NG_033118.1:g.149349_149350insG
NG_033118.2:g.149349_149350insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5216_5217insG MANE Select	ENSP00000374507.6:p.Ser1740LeufsTer20
ENST00000331194.8:c.788_789insG	ENSP00000330332.8:p.Ser264LeufsTer20
ENST00000334448.5:n.1028_1029insG
ENST00000389857.10:c.5216_5217insG	ENSP00000374507.6:p.Ser1740LeufsTer20
ENST00000556726.5:c.1444_1445insG
NM_001080414.3:c.5216_5217insG	NP_001073883.2:p.Ser1740LeufsTer20
XM_011536796.1:c.5108_5109insG	XP_011535098.1:p.Ser1704LeufsTer20
XR_429316.2:n.5491_5492insG
XM_011536796.2:c.5108_5109insG	XP_011535098.1:p.Ser1704LeufsTer20
XM_017021336.1:c.2297_2298insG	XP_016876825.1:p.Ser767LeufsTer20
XR_429316.4:n.5489_5490insG
NM_001080414.4:c.5216_5217insG MANE Select	NP_001073883.2:p.Ser1740LeufsTer20