Canonical Allele Identifier: CA347158

Gene: DCC

Linked Data

• ClinVar Variation Id: 187795
• ClinVar RCV Id: RCV000192078
• dbSNP Id: rs797044552
• MyVariant Identifiers: chr18:g.50432572dupG (hg19) ; chr18:g.52906202dupG (hg38)
• PubMed: PMID:20431009 ; PMID:25763452

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.52906202dup , CM000680.2:g.52906202dup	GRCh38
NC_000018.9:g.50432572dup , CM000680.1:g.50432572dup	GRCh37
NC_000018.8:g.48686570dup	NCBI36
NG_013341.1:g.571031dup
NG_013341.2:g.571031dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.571dup MANE Select	ENSP00000389140.2:p.Val191GlyfsTer?
ENST00000304775.12:c.372dup
ENST00000412726.5:c.502dup	ENSP00000397322.2:p.Val168GlyfsTer?
ENST00000442544.6:c.571dup	ENSP00000389140.2:p.Val191GlyfsTer?
ENST00000579349.1:c.492dup
ENST00000580024.1:n.484dup
ENST00000581559.1:c.492dup	ENSP00000463463.1:n.492dup
NM_005215.3:c.571dup	NP_005206.2:p.Val191GlyfsTer?
XM_011525843.1:c.571dup	XP_011524145.1:p.Val191GlyfsTer?
XM_011525845.1:c.571dup	XP_011524147.1:p.Val191GlyfsTer?
XM_011525846.1:c.571dup	XP_011524148.1:p.Val191GlyfsTer?
XM_017025568.1:c.571dup	XP_016881057.1:p.Val191GlyfsTer?
XM_017025569.1:c.571dup	XP_016881058.1:p.Val191GlyfsTer?
NM_005215.4:c.571dup MANE Select	NP_005206.2:p.Val191GlyfsTer?