Canonical Allele Identifier: CA7308747

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2883371
• ClinVar RCV Id: RCV003721922
• dbSNP Id: rs762800401
• ExAC: 14:91740006 AAG / A
• gnomAD v2: 14-91740006-AAG-A
• gnomAD v3: 14-91273662-AAG-A
• gnomAD v4: 14-91273662-AAG-A
• MyVariant Identifiers: chr14:g.91740007_91740008del (hg19) ; chr14:g.91273664_91273665del (hg38) ; chr14:g.91273663_91273664del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273667_91273668del , CM000676.2:g.91273667_91273668del	GRCh38
NC_000014.8:g.91740011_91740012del , CM000676.1:g.91740011_91740012del	GRCh37
NC_000014.7:g.90809764_90809765del	NCBI36
NG_033118.1:g.149181_149182del
NG_033118.2:g.149181_149182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5059-11_5059-10del MANE Select	ENSP00000374507.6:n.5059-11_5059-10del
ENST00000331194.8:c.631-11_631-10del	ENSP00000330332.8:n.631-11_631-10del
ENST00000334448.5:n.871-11_871-10del
ENST00000389857.10:c.5059-11_5059-10del	ENSP00000374507.6:n.5059-11_5059-10del
ENST00000556726.5:c.1287-11_1287-10del
NM_001080414.3:c.5059-11_5059-10del	NP_001073883.2:n.5059-11_5059-10del
XM_011536796.1:c.4951-11_4951-10del	XP_011535098.1:n.4951-11_4951-10del
XR_429316.2:n.5334-11_5334-10del
XM_011536796.2:c.4951-11_4951-10del	XP_011535098.1:n.4951-11_4951-10del
XM_017021336.1:c.2140-11_2140-10del	XP_016876825.1:n.2140-11_2140-10del
XR_429316.4:n.5332-11_5332-10del
NM_001080414.4:c.5059-11_5059-10del MANE Select	NP_001073883.2:n.5059-11_5059-10del