Allele Registry

Canonical Allele Identifier: CA347164

Gene: DCC HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr18:g.53402829_53402833dupAGGGA

GRCh37 chr18:g.50929199_50929203dupAGGGA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000192082

ClinVar Variation:

187799

dbSNP:

797044555

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.53402831_53402835dup , CM000680.2:g.53402831_53402835dup	GRCh38
NC_000018.9:g.50929201_50929205dup , CM000680.1:g.50929201_50929205dup	GRCh37
NC_000018.8:g.49183199_49183203dup	NCBI36
NG_013341.1:g.1067660_1067664dup
NG_013341.2:g.1067660_1067664dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.2873_2877dup MANE Select	ENSP00000389140.2:p.Pro960GlyfsTer8
ENST00000304775.12:c.2441_2445dup
ENST00000412726.5:c.2804_2808dup	ENSP00000397322.2:p.Pro937GlyfsTer8
ENST00000442544.6:c.2873_2877dup	ENSP00000389140.2:p.Pro960GlyfsTer8
ENST00000579941.1:c.289_293dup
ENST00000581580.5:c.1778_1782dup	ENSP00000464582.1:p.Pro595GlyfsTer8
NM_005215.3:c.2873_2877dup	NP_005206.2:p.Pro960GlyfsTer8
XM_011525843.1:c.2873_2877dup	XP_011524145.1:p.Pro960GlyfsTer8
XM_011525844.1:c.1838_1842dup	XP_011524146.1:p.Pro615GlyfsTer8
XM_011525845.1:c.2873_2877dup	XP_011524147.1:p.Pro960GlyfsTer8
XM_011525846.1:c.2813_2817dup	XP_011524148.1:p.Pro940GlyfsTer8
XM_011525844.2:c.1838_1842dup	XP_011524146.1:p.Pro615GlyfsTer8
XM_017025568.1:c.2873_2877dup	XP_016881057.1:p.Pro960GlyfsTer8
XM_017025569.1:c.2813_2817dup	XP_016881058.1:p.Pro940GlyfsTer8
XM_017025570.1:c.1838_1842dup	XP_016881059.1:p.Pro615GlyfsTer8
NM_005215.4:c.2873_2877dup MANE Select	NP_005206.2:p.Pro960GlyfsTer8

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