Canonical Allele Identifier: CA2626127220

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272705-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272708del , CM000676.2:g.91272708del	GRCh38
NC_000014.8:g.91739052del , CM000676.1:g.91739052del	GRCh37
NC_000014.7:g.90808805del	NCBI36
NG_033118.1:g.150139del
NG_033118.2:g.150139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6006del MANE Select	ENSP00000374507.6:p.Ser2003AlafsTer?
ENST00000331194.8:c.1440del	ENSP00000330332.8:p.Ser481AlafsTer?
ENST00000389857.10:c.6006del	ENSP00000374507.6:p.Ser2003AlafsTer?
ENST00000556726.5:c.2234del
NM_001080414.3:c.6006del	NP_001073883.2:p.Ser2003AlafsTer?
XM_011536796.1:c.5898del	XP_011535098.1:p.Ser1967AlafsTer?
XM_011536796.2:c.5898del	XP_011535098.1:p.Ser1967AlafsTer?
XM_017021336.1:c.3087del	XP_016876825.1:p.Ser1030AlafsTer?
NM_001080414.4:c.6006del MANE Select	NP_001073883.2:p.Ser2003AlafsTer?