Canonical Allele Identifier: CA616112331

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1567069158
• gnomAD v2: 14-91779663-CCTT-C
• gnomAD v4: 14-91313319-CCTT-C
• MyVariant Identifiers: chr14:g.91779664_91779666del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313322_91313324del , CM000676.2:g.91313322_91313324del	GRCh38
NC_000014.8:g.91779666_91779668del , CM000676.1:g.91779666_91779668del	GRCh37
NC_000014.7:g.90849419_90849421del	NCBI36
NG_033118.1:g.109523_109525del
NG_033118.2:g.109523_109525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2494_2496del MANE Select	ENSP00000374507.6:p.Lys832del
ENST00000389857.10:c.2494_2496del	ENSP00000374507.6:p.Lys832del
NM_001080414.3:c.2494_2496del	NP_001073883.2:p.Lys832del
XM_005267691.3:c.2494_2496del	XP_005267748.1:p.Lys832del
XM_011536796.1:c.2386_2388del	XP_011535098.1:p.Lys796del
XR_429316.2:n.2622_2624del
XR_943459.1:n.2622_2624del
XM_005267691.5:c.2494_2496del	XP_005267748.1:p.Lys832del
XM_011536796.2:c.2386_2388del	XP_011535098.1:p.Lys796del
XM_017021335.2:c.2494_2496del	XP_016876824.1:p.Lys832del
XM_017021337.2:c.2494_2496del	XP_016876826.1:p.Lys832del
XR_429316.4:n.2620_2622del
NM_001080414.4:c.2494_2496del MANE Select	NP_001073883.2:p.Lys832del