Canonical Allele Identifier: CA616112439

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1256550559
• gnomAD v2: 14-91779497-TCCTTCAGCTTGCCGGCTGCGTC-T
• gnomAD v4: 14-91313153-TCCTTCAGCTTGCCGGCTGCGTC-T
• MyVariant Identifiers: chr14:g.91779498_91779519del (hg19) ; chr14:g.91313154_91313175del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313157_91313178del , CM000676.2:g.91313157_91313178del	GRCh38
NC_000014.8:g.91779501_91779522del , CM000676.1:g.91779501_91779522del	GRCh37
NC_000014.7:g.90849254_90849275del	NCBI36
NG_033118.1:g.109670_109691del
NG_033118.2:g.109670_109691del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2641_2662del MANE Select	ENSP00000374507.6:p.Asp881SerfsTer20
ENST00000389857.10:c.2641_2662del	ENSP00000374507.6:p.Asp881SerfsTer20
NM_001080414.3:c.2641_2662del	NP_001073883.2:p.Asp881SerfsTer20
XM_005267691.3:c.2641_2662del	XP_005267748.1:p.Asp881SerfsTer20
XM_011536796.1:c.2533_2554del	XP_011535098.1:p.Asp845SerfsTer20
XR_429316.2:n.2769_2790del
XR_943459.1:n.2769_2790del
XM_005267691.5:c.2641_2662del	XP_005267748.1:p.Asp881SerfsTer20
XM_011536796.2:c.2533_2554del	XP_011535098.1:p.Asp845SerfsTer20
XM_017021335.2:c.2641_2662del	XP_016876824.1:p.Asp881SerfsTer20
XM_017021337.2:c.2641_2662del	XP_016876826.1:p.Asp881SerfsTer20
XR_429316.4:n.2767_2788del
NM_001080414.4:c.2641_2662del MANE Select	NP_001073883.2:p.Asp881SerfsTer20