Canonical Allele Identifier: CA2626131153

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313735-CCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313737_91313739del , CM000676.2:g.91313737_91313739del	GRCh38
NC_000014.8:g.91780081_91780083del , CM000676.1:g.91780081_91780083del	GRCh37
NC_000014.7:g.90849834_90849836del	NCBI36
NG_033118.1:g.109107_109109del
NG_033118.2:g.109107_109109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2078_2080del MANE Select	ENSP00000374507.6:p.Glu693del
ENST00000389857.10:c.2078_2080del	ENSP00000374507.6:p.Glu693del
NM_001080414.3:c.2078_2080del	NP_001073883.2:p.Glu693del
XM_005267691.3:c.2078_2080del	XP_005267748.1:p.Glu693del
XM_011536796.1:c.1970_1972del	XP_011535098.1:p.Glu657del
XR_429316.2:n.2206_2208del
XR_943459.1:n.2206_2208del
XM_005267691.5:c.2078_2080del	XP_005267748.1:p.Glu693del
XM_011536796.2:c.1970_1972del	XP_011535098.1:p.Glu657del
XM_017021335.2:c.2078_2080del	XP_016876824.1:p.Glu693del
XM_017021337.2:c.2078_2080del	XP_016876826.1:p.Glu693del
XR_429316.4:n.2204_2206del
NM_001080414.4:c.2078_2080del MANE Select	NP_001073883.2:p.Glu693del