Canonical Allele Identifier: CA709862957

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1250863551
• gnomAD v3: 14-91273776-TCTC-T
• gnomAD v4: 14-91273776-TCTC-T
• MyVariant Identifiers: chr14:g.91740121_91740123del (hg19) ; chr14:g.91273777_91273779del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273778_91273780del , CM000676.2:g.91273778_91273780del	GRCh38
NC_000014.8:g.91740122_91740124del , CM000676.1:g.91740122_91740124del	GRCh37
NC_000014.7:g.90809875_90809877del	NCBI36
NG_033118.1:g.149066_149068del
NG_033118.2:g.149066_149068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5059-126_5059-124del MANE Select	ENSP00000374507.6:n.5059-126_5059-124del
ENST00000331194.8:c.631-126_631-124del	ENSP00000330332.8:n.631-126_631-124del
ENST00000334448.5:n.871-126_871-124del
ENST00000389857.10:c.5059-126_5059-124del	ENSP00000374507.6:n.5059-126_5059-124del
ENST00000556726.5:c.1287-126_1287-124del
NM_001080414.3:c.5059-126_5059-124del	NP_001073883.2:n.5059-126_5059-124del
XM_011536796.1:c.4951-126_4951-124del	XP_011535098.1:n.4951-126_4951-124del
XR_429316.2:n.5334-126_5334-124del
XM_011536796.2:c.4951-126_4951-124del	XP_011535098.1:n.4951-126_4951-124del
XM_017021336.1:c.2140-126_2140-124del	XP_016876825.1:n.2140-126_2140-124del
XR_429316.4:n.5332-126_5332-124del
NM_001080414.4:c.5059-126_5059-124del MANE Select	NP_001073883.2:n.5059-126_5059-124del