Canonical Allele Identifier: CA709862266

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1436552673
• MyVariant Identifiers: chr14:g.91739791_91739792insA (hg19) ; chr14:g.91273447_91273448insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273449dup , CM000676.2:g.91273449dup	GRCh38
NC_000014.8:g.91739793dup , CM000676.1:g.91739793dup	GRCh37
NC_000014.7:g.90809546dup	NCBI36
NG_033118.1:g.149397dup
NG_033118.2:g.149397dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5264dup MANE Select	ENSP00000374507.6:p.Arg1756GlnfsTer4
ENST00000331194.8:c.836dup	ENSP00000330332.8:p.Arg280GlnfsTer4
ENST00000389857.10:c.5264dup	ENSP00000374507.6:p.Arg1756GlnfsTer4
ENST00000556726.5:c.1492dup
NM_001080414.3:c.5264dup	NP_001073883.2:p.Arg1756GlnfsTer4
XM_011536796.1:c.5156dup	XP_011535098.1:p.Arg1720GlnfsTer4
XM_011536796.2:c.5156dup	XP_011535098.1:p.Arg1720GlnfsTer4
XM_017021336.1:c.2345dup	XP_016876825.1:p.Arg783GlnfsTer4
NM_001080414.4:c.5264dup MANE Select	NP_001073883.2:p.Arg1756GlnfsTer4