Canonical Allele Identifier: CA2626123449

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273591-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273596del , CM000676.2:g.91273596del	GRCh38
NC_000014.8:g.91739940del , CM000676.1:g.91739940del	GRCh37
NC_000014.7:g.90809693del	NCBI36
NG_033118.1:g.149253del
NG_033118.2:g.149253del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5120del MANE Select	ENSP00000374507.6:p.Pro1707GlnfsTer?
ENST00000331194.8:c.692del	ENSP00000330332.8:p.Pro231GlnfsTer?
ENST00000334448.5:n.932del
ENST00000389857.10:c.5120del	ENSP00000374507.6:p.Pro1707GlnfsTer?
ENST00000556726.5:c.1348del
NM_001080414.3:c.5120del	NP_001073883.2:p.Pro1707GlnfsTer?
XM_011536796.1:c.5012del	XP_011535098.1:p.Pro1671GlnfsTer?
XR_429316.2:n.5395del
XM_011536796.2:c.5012del	XP_011535098.1:p.Pro1671GlnfsTer?
XM_017021336.1:c.2201del	XP_016876825.1:p.Pro734GlnfsTer?
XR_429316.4:n.5393del
NM_001080414.4:c.5120del MANE Select	NP_001073883.2:p.Pro1707GlnfsTer?