Canonical Allele Identifier: CA2626131127

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313531-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313533del , CM000676.2:g.91313533del	GRCh38
NC_000014.8:g.91779877del , CM000676.1:g.91779877del	GRCh37
NC_000014.7:g.90849630del	NCBI36
NG_033118.1:g.109313del
NG_033118.2:g.109313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2284del MANE Select	ENSP00000374507.6:p.Gln762ArgfsTer3
ENST00000389857.10:c.2284del	ENSP00000374507.6:p.Gln762ArgfsTer3
NM_001080414.3:c.2284del	NP_001073883.2:p.Gln762ArgfsTer3
XM_005267691.3:c.2284del	XP_005267748.1:p.Gln762ArgfsTer3
XM_011536796.1:c.2176del	XP_011535098.1:p.Gln726ArgfsTer3
XR_429316.2:n.2412del
XR_943459.1:n.2412del
XM_005267691.5:c.2284del	XP_005267748.1:p.Gln762ArgfsTer3
XM_011536796.2:c.2176del	XP_011535098.1:p.Gln726ArgfsTer3
XM_017021335.2:c.2284del	XP_016876824.1:p.Gln762ArgfsTer3
XM_017021337.2:c.2284del	XP_016876826.1:p.Gln762ArgfsTer3
XR_429316.4:n.2410del
NM_001080414.4:c.2284del MANE Select	NP_001073883.2:p.Gln762ArgfsTer3