Canonical Allele Identifier: CA2626127262

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272753-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272756del , CM000676.2:g.91272756del	GRCh38
NC_000014.8:g.91739100del , CM000676.1:g.91739100del	GRCh37
NC_000014.7:g.90808853del	NCBI36
NG_033118.1:g.150091del
NG_033118.2:g.150091del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5958del MANE Select	ENSP00000374507.6:p.Asp1987IlefsTer?
ENST00000331194.8:c.1392del	ENSP00000330332.8:p.Asp465IlefsTer?
ENST00000389857.10:c.5958del	ENSP00000374507.6:p.Asp1987IlefsTer?
ENST00000556726.5:c.2186del
NM_001080414.3:c.5958del	NP_001073883.2:p.Asp1987IlefsTer?
XM_011536796.1:c.5850del	XP_011535098.1:p.Asp1951IlefsTer?
XM_011536796.2:c.5850del	XP_011535098.1:p.Asp1951IlefsTer?
XM_017021336.1:c.3039del	XP_016876825.1:p.Asp1014IlefsTer?
NM_001080414.4:c.5958del MANE Select	NP_001073883.2:p.Asp1987IlefsTer?