Canonical Allele Identifier: CA2730191728

Gene: CCDC88C

Linked Data

• dbSNP Id: rs2140903146

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272701del , CM000676.2:g.91272701del	GRCh38
NC_000014.8:g.91739045del , CM000676.1:g.91739045del	GRCh37
NC_000014.7:g.90808798del	NCBI36
NG_033118.1:g.150144del
NG_033118.2:g.150144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6011del MANE Select	ENSP00000374507.6:p.Val2004AlafsTer?
ENST00000331194.8:c.1445del	ENSP00000330332.8:p.Val482AlafsTer?
ENST00000389857.10:c.6011del	ENSP00000374507.6:p.Val2004AlafsTer?
ENST00000556726.5:c.2239del
NM_001080414.3:c.6011del	NP_001073883.2:p.Val2004AlafsTer?
XM_011536796.1:c.5903del	XP_011535098.1:p.Val1968AlafsTer?
XM_011536796.2:c.5903del	XP_011535098.1:p.Val1968AlafsTer?
XM_017021336.1:c.3092del	XP_016876825.1:p.Val1031AlafsTer?
NM_001080414.4:c.6011del MANE Select	NP_001073883.2:p.Val2004AlafsTer?