Canonical Allele Identifier: CA2626126780

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272375-GATT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272379_91272381del , CM000676.2:g.91272379_91272381del	GRCh38
NC_000014.8:g.91738723_91738725del , CM000676.1:g.91738723_91738725del	GRCh37
NC_000014.7:g.90808476_90808478del	NCBI36
NG_033118.1:g.150467_150469del
NG_033118.2:g.150467_150469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*247_*249del MANE Select	ENSP00000374507.6:n.*247_*249del
ENST00000331194.8:c.*247_*249del	ENSP00000330332.8:n.*247_*249del
ENST00000389857.10:c.*247_*249del	ENSP00000374507.6:n.*247_*249del
ENST00000556726.5:c.2562_2564del
NM_001080414.3:c.*247_*249del	NP_001073883.2:n.*247_*249del
XM_011536796.1:c.*247_*249del	XP_011535098.1:n.*247_*249del
XM_011536796.2:c.*247_*249del	XP_011535098.1:n.*247_*249del
XM_017021336.1:c.*247_*249del	XP_016876825.1:n.*247_*249del
NM_001080414.4:c.*247_*249del MANE Select	NP_001073883.2:n.*247_*249del