Canonical Allele Identifier: CA709859965

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1199833249
• gnomAD v3: 14-91272427-CGTTA-C
• gnomAD v4: 14-91272427-CGTTA-C
• MyVariant Identifiers: chr14:g.91738772_91738775del (hg19) ; chr14:g.91272428_91272431del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272428_91272431del , CM000676.2:g.91272428_91272431del	GRCh38
NC_000014.8:g.91738772_91738775del , CM000676.1:g.91738772_91738775del	GRCh37
NC_000014.7:g.90808525_90808528del	NCBI36
NG_033118.1:g.150414_150417del
NG_033118.2:g.150414_150417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*194_*197del MANE Select	ENSP00000374507.6:n.*194_*197del
ENST00000331194.8:c.*194_*197del	ENSP00000330332.8:n.*194_*197del
ENST00000389857.10:c.*194_*197del	ENSP00000374507.6:n.*194_*197del
ENST00000556726.5:c.2509_2512del
NM_001080414.3:c.*194_*197del	NP_001073883.2:n.*194_*197del
XM_011536796.1:c.*194_*197del	XP_011535098.1:n.*194_*197del
XM_011536796.2:c.*194_*197del	XP_011535098.1:n.*194_*197del
XM_017021336.1:c.*194_*197del	XP_016876825.1:n.*194_*197del
NM_001080414.4:c.*194_*197del MANE Select	NP_001073883.2:n.*194_*197del