Canonical Allele Identifier: CA965920862

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1889789530
• gnomAD v3: 14-91272744-GA-G
• gnomAD v4: 14-91272744-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272745del , CM000676.2:g.91272745del	GRCh38
NC_000014.8:g.91739089del , CM000676.1:g.91739089del	GRCh37
NC_000014.7:g.90808842del	NCBI36
NG_033118.1:g.150100del
NG_033118.2:g.150100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5967del MANE Select	ENSP00000374507.6:p.His1991ThrfsTer?
ENST00000331194.8:c.1401del	ENSP00000330332.8:p.His469ThrfsTer?
ENST00000389857.10:c.5967del	ENSP00000374507.6:p.His1991ThrfsTer?
ENST00000556726.5:c.2195del
NM_001080414.3:c.5967del	NP_001073883.2:p.His1991ThrfsTer?
XM_011536796.1:c.5859del	XP_011535098.1:p.His1955ThrfsTer?
XM_011536796.2:c.5859del	XP_011535098.1:p.His1955ThrfsTer?
XM_017021336.1:c.3048del	XP_016876825.1:p.His1018ThrfsTer?
NM_001080414.4:c.5967del MANE Select	NP_001073883.2:p.His1991ThrfsTer?