Canonical Allele Identifier: CA709859955

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1256524828
• gnomAD v3: 14-91272423-AAC-A
• gnomAD v4: 14-91272423-AAC-A
• MyVariant Identifiers: chr14:g.91738768_91738769del (hg19) ; chr14:g.91272424_91272425del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272426_91272427del , CM000676.2:g.91272426_91272427del	GRCh38
NC_000014.8:g.91738770_91738771del , CM000676.1:g.91738770_91738771del	GRCh37
NC_000014.7:g.90808523_90808524del	NCBI36
NG_033118.1:g.150420_150421del
NG_033118.2:g.150420_150421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*200_*201del MANE Select	ENSP00000374507.6:n.*200_*201del
ENST00000331194.8:c.*200_*201del	ENSP00000330332.8:n.*200_*201del
ENST00000389857.10:c.*200_*201del	ENSP00000374507.6:n.*200_*201del
ENST00000556726.5:c.2515_2516del
NM_001080414.3:c.*200_*201del	NP_001073883.2:n.*200_*201del
XM_011536796.1:c.*200_*201del	XP_011535098.1:n.*200_*201del
XM_011536796.2:c.*200_*201del	XP_011535098.1:n.*200_*201del
XM_017021336.1:c.*200_*201del	XP_016876825.1:n.*200_*201del
NM_001080414.4:c.*200_*201del MANE Select	NP_001073883.2:n.*200_*201del