Allele Registry

Canonical Allele Identifier: CA347166

Gene: DCC HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr18:g.53486895_53486896del

GRCh37 chr18:g.51013265_51013266del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000192083

ClinVar Variation:

187800

dbSNP:

797044556

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.53486896_53486897del , CM000680.2:g.53486896_53486897del	GRCh38
NC_000018.9:g.51013266_51013267del , CM000680.1:g.51013266_51013267del	GRCh37
NC_000018.8:g.49267264_49267265del	NCBI36
NG_013341.1:g.1151725_1151726del
NG_013341.2:g.1151725_1151726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.3836_3837del MANE Select	ENSP00000389140.2:p.Leu1279ProfsTer24
ENST00000412726.5:c.3767_3768del	ENSP00000397322.2:p.Leu1256ProfsTer24
ENST00000442544.6:c.3836_3837del	ENSP00000389140.2:p.Leu1279ProfsTer24
ENST00000581580.5:c.2741_2742del	ENSP00000464582.1:p.Leu914ProfsTer22
NM_005215.3:c.3836_3837del	NP_005206.2:p.Leu1279ProfsTer24
XM_011525843.1:c.3836_3837del	XP_011524145.1:p.Leu1279ProfsTer24
XM_011525844.1:c.2801_2802del	XP_011524146.1:p.Leu934ProfsTer24
XM_011525844.2:c.2801_2802del	XP_011524146.1:p.Leu934ProfsTer24
XM_017025568.1:c.3836_3837del	XP_016881057.1:p.Leu1279ProfsTer22
XM_017025569.1:c.3776_3777del	XP_016881058.1:p.Leu1259ProfsTer24
XM_017025570.1:c.2801_2802del	XP_016881059.1:p.Leu934ProfsTer24
NM_005215.4:c.3836_3837del MANE Select	NP_005206.2:p.Leu1279ProfsTer24

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