Canonical Allele Identifier: CA2626131661

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91305805-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305807del , CM000676.2:g.91305807del	GRCh38
NC_000014.8:g.91772151del , CM000676.1:g.91772151del	GRCh37
NC_000014.7:g.90841904del	NCBI36
NG_033118.1:g.117039del
NG_033118.2:g.117039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3316del MANE Select	ENSP00000374507.6:p.Glu1106SerfsTer20
ENST00000389857.10:c.3316del	ENSP00000374507.6:p.Glu1106SerfsTer20
NM_001080414.3:c.3316del	NP_001073883.2:p.Glu1106SerfsTer20
XM_005267691.3:c.3316del	XP_005267748.1:p.Glu1106SerfsTer20
XM_011536796.1:c.3208del	XP_011535098.1:p.Glu1070SerfsTer20
XR_429316.2:n.3444del
XR_943459.1:n.3444del
XM_005267691.5:c.3316del	XP_005267748.1:p.Glu1106SerfsTer20
XM_011536796.2:c.3208del	XP_011535098.1:p.Glu1070SerfsTer20
XM_017021335.2:c.3316del	XP_016876824.1:p.Glu1106SerfsTer20
XM_017021336.1:c.397del	XP_016876825.1:p.Glu133SerfsTer20
XR_429316.4:n.3442del
NM_001080414.4:c.3316del MANE Select	NP_001073883.2:p.Glu1106SerfsTer20