Canonical Allele Identifier: CA2626127264

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272774-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272776del , CM000676.2:g.91272776del	GRCh38
NC_000014.8:g.91739120del , CM000676.1:g.91739120del	GRCh37
NC_000014.7:g.90808873del	NCBI36
NG_033118.1:g.150070del
NG_033118.2:g.150070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5937del MANE Select	ENSP00000374507.6:p.Lys1980ArgfsTer?
ENST00000331194.8:c.1371del	ENSP00000330332.8:p.Lys458ArgfsTer?
ENST00000389857.10:c.5937del	ENSP00000374507.6:p.Lys1980ArgfsTer?
ENST00000556726.5:c.2165del
NM_001080414.3:c.5937del	NP_001073883.2:p.Lys1980ArgfsTer?
XM_011536796.1:c.5829del	XP_011535098.1:p.Lys1944ArgfsTer?
XM_011536796.2:c.5829del	XP_011535098.1:p.Lys1944ArgfsTer?
XM_017021336.1:c.3018del	XP_016876825.1:p.Lys1007ArgfsTer?
NM_001080414.4:c.5937del MANE Select	NP_001073883.2:p.Lys1980ArgfsTer?