Canonical Allele Identifier: CA265516575

Gene: CCDC88C

Linked Data

• dbSNP Id: rs533715687
• gnomAD v2: 14-91738828-GAACA-G
• gnomAD v3: 14-91272484-GAACA-G
• gnomAD v4: 14-91272484-GAACA-G
• MyVariant Identifiers: chr14:g.91738829_91738832del (hg19) ; chr14:g.91272485_91272488del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272489_91272492del , CM000676.2:g.91272489_91272492del	GRCh38
NC_000014.8:g.91738833_91738836del , CM000676.1:g.91738833_91738836del	GRCh37
NC_000014.7:g.90808586_90808589del	NCBI36
NG_033118.1:g.150357_150360del
NG_033118.2:g.150357_150360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*137_*140del MANE Select	ENSP00000374507.6:n.*137_*140del
ENST00000331194.8:c.*137_*140del	ENSP00000330332.8:n.*137_*140del
ENST00000389857.10:c.*137_*140del	ENSP00000374507.6:n.*137_*140del
ENST00000556726.5:c.2452_2455del
NM_001080414.3:c.*137_*140del	NP_001073883.2:n.*137_*140del
XM_011536796.1:c.*137_*140del	XP_011535098.1:n.*137_*140del
XM_011536796.2:c.*137_*140del	XP_011535098.1:n.*137_*140del
XM_017021336.1:c.*137_*140del	XP_016876825.1:n.*137_*140del
NM_001080414.4:c.*137_*140del MANE Select	NP_001073883.2:n.*137_*140del