Canonical Allele Identifier: CA2626126948

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272492-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272493del , CM000676.2:g.91272493del	GRCh38
NC_000014.8:g.91738837del , CM000676.1:g.91738837del	GRCh37
NC_000014.7:g.90808590del	NCBI36
NG_033118.1:g.150352del
NG_033118.2:g.150352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*132del MANE Select	ENSP00000374507.6:n.*132del
ENST00000331194.8:c.*132del	ENSP00000330332.8:n.*132del
ENST00000389857.10:c.*132del	ENSP00000374507.6:n.*132del
ENST00000556726.5:c.2447del
NM_001080414.3:c.*132del	NP_001073883.2:n.*132del
XM_011536796.1:c.*132del	XP_011535098.1:n.*132del
XM_011536796.2:c.*132del	XP_011535098.1:n.*132del
XM_017021336.1:c.*132del	XP_016876825.1:n.*132del
NM_001080414.4:c.*132del MANE Select	NP_001073883.2:n.*132del