Canonical Allele Identifier: CA2626127032

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272547-GGCAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272553_91272556del , CM000676.2:g.91272553_91272556del	GRCh38
NC_000014.8:g.91738897_91738900del , CM000676.1:g.91738897_91738900del	GRCh37
NC_000014.7:g.90808650_90808653del	NCBI36
NG_033118.1:g.150294_150297del
NG_033118.2:g.150294_150297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*74_*77del MANE Select	ENSP00000374507.6:n.*74_*77del
ENST00000331194.8:c.*74_*77del	ENSP00000330332.8:n.*74_*77del
ENST00000389857.10:c.*74_*77del	ENSP00000374507.6:n.*74_*77del
ENST00000556726.5:c.2389_2392del
NM_001080414.3:c.*74_*77del	NP_001073883.2:n.*74_*77del
XM_011536796.1:c.*74_*77del	XP_011535098.1:n.*74_*77del
XM_011536796.2:c.*74_*77del	XP_011535098.1:n.*74_*77del
XM_017021336.1:c.*74_*77del	XP_016876825.1:n.*74_*77del
NM_001080414.4:c.*74_*77del MANE Select	NP_001073883.2:n.*74_*77del