Allele Registry

Canonical Allele Identifier: CA347162

Gene: DCC HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr18:g.53157430_53157431insAGCC

GRCh37 chr18:g.50683800_50683801insAGCC

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000192081

ClinVar Variation:

187798

dbSNP:

797044554

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.53157430_53157431insAGCC , CM000680.2:g.53157430_53157431insAGCC	GRCh38
NC_000018.9:g.50683800_50683801insAGCC , CM000680.1:g.50683800_50683801insAGCC	GRCh37
NC_000018.8:g.48937798_48937799insAGCC	NCBI36
NG_013341.1:g.822259_822260insAGCC
NG_013341.2:g.822259_822260insAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.1336_1337insAGCC MANE Select	ENSP00000389140.2:p.Arg446GlnfsTer27
ENST00000304775.12:c.1137_1138insAGCC
ENST00000412726.5:c.1267_1268insAGCC	ENSP00000397322.2:p.Arg423GlnfsTer27
ENST00000442544.6:c.1336_1337insAGCC	ENSP00000389140.2:p.Arg446GlnfsTer27
ENST00000578949.1:c.301_302insAGCC	ENSP00000463766.1:p.Arg101GlnfsTer?
ENST00000581580.5:c.301_302insAGCC	ENSP00000464582.1:p.Arg101GlnfsTer27
NM_005215.3:c.1336_1337insAGCC	NP_005206.2:p.Arg446GlnfsTer27
XM_011525843.1:c.1336_1337insAGCC	XP_011524145.1:p.Arg446GlnfsTer27
XM_011525844.1:c.301_302insAGCC	XP_011524146.1:p.Arg101GlnfsTer27
XM_011525845.1:c.1336_1337insAGCC	XP_011524147.1:p.Arg446GlnfsTer27
XM_011525846.1:c.1336_1337insAGCC	XP_011524148.1:p.Arg446GlnfsTer27
XM_011525844.2:c.301_302insAGCC	XP_011524146.1:p.Arg101GlnfsTer27
XM_017025568.1:c.1336_1337insAGCC	XP_016881057.1:p.Arg446GlnfsTer27
XM_017025569.1:c.1336_1337insAGCC	XP_016881058.1:p.Arg446GlnfsTer27
XM_017025570.1:c.301_302insAGCC	XP_016881059.1:p.Arg101GlnfsTer27
NM_005215.4:c.1336_1337insAGCC MANE Select	NP_005206.2:p.Arg446GlnfsTer27

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