Canonical Allele Identifier: CA616112330

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1408792536
• gnomAD v2: 14-91739829-TC-T
• gnomAD v4: 14-91273485-TC-T
• MyVariant Identifiers: chr14:g.91739830del (hg19) ; chr14:g.91273486del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273489del , CM000676.2:g.91273489del	GRCh38
NC_000014.8:g.91739833del , CM000676.1:g.91739833del	GRCh37
NC_000014.7:g.90809586del	NCBI36
NG_033118.1:g.149359del
NG_033118.2:g.149359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5226del MANE Select	ENSP00000374507.6:p.Arg1743GlyfsTer3
ENST00000331194.8:c.798del	ENSP00000330332.8:p.Arg267GlyfsTer3
ENST00000334448.5:n.1038del
ENST00000389857.10:c.5226del	ENSP00000374507.6:p.Arg1743GlyfsTer3
ENST00000556726.5:c.1454del
NM_001080414.3:c.5226del	NP_001073883.2:p.Arg1743GlyfsTer3
XM_011536796.1:c.5118del	XP_011535098.1:p.Arg1707GlyfsTer3
XR_429316.2:n.5501del
XM_011536796.2:c.5118del	XP_011535098.1:p.Arg1707GlyfsTer3
XM_017021336.1:c.2307del	XP_016876825.1:p.Arg770GlyfsTer3
XR_429316.4:n.5499del
NM_001080414.4:c.5226del MANE Select	NP_001073883.2:p.Arg1743GlyfsTer3