Canonical Allele Identifier: CA2626130637

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313298-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313301_91313303del , CM000676.2:g.91313301_91313303del	GRCh38
NC_000014.8:g.91779645_91779647del , CM000676.1:g.91779645_91779647del	GRCh37
NC_000014.7:g.90849398_90849400del	NCBI36
NG_033118.1:g.109544_109546del
NG_033118.2:g.109544_109546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2515_2517del MANE Select	ENSP00000374507.6:p.Lys839del
ENST00000389857.10:c.2515_2517del	ENSP00000374507.6:p.Lys839del
NM_001080414.3:c.2515_2517del	NP_001073883.2:p.Lys839del
XM_005267691.3:c.2515_2517del	XP_005267748.1:p.Lys839del
XM_011536796.1:c.2407_2409del	XP_011535098.1:p.Lys803del
XR_429316.2:n.2643_2645del
XR_943459.1:n.2643_2645del
XM_005267691.5:c.2515_2517del	XP_005267748.1:p.Lys839del
XM_011536796.2:c.2407_2409del	XP_011535098.1:p.Lys803del
XM_017021335.2:c.2515_2517del	XP_016876824.1:p.Lys839del
XM_017021337.2:c.2515_2517del	XP_016876826.1:p.Lys839del
XR_429316.4:n.2641_2643del
NM_001080414.4:c.2515_2517del MANE Select	NP_001073883.2:p.Lys839del