Canonical Allele Identifier: CA16044031
Gene: DCC HGNC NCBI

Linked Data

ClinVar Variation Id: 375281
ClinVar RCV Id: RCV000416317 RCV000494695
dbSNP Id: rs1057519053
MyVariant Identifiers: chr18:g.50451680del (hg19) chr18:g.52925310del (hg38)
PubMed: PMID:28250454
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.52925310del , CM000680.2:g.52925310del GRCh38
NC_000018.9:g.50451680del , CM000680.1:g.50451680del GRCh37
NC_000018.8:g.48705678del NCBI36
NG_013341.1:g.590139del
NG_013341.2:g.590139del

Transcript Alleles

HGVS Amino-acid change
ENST00000442544.7:c.925del MANE Select ENSP00000389140.2:p.Thr309ProfsTer26
ENST00000304775.12:c.726del
ENST00000412726.5:c.856del ENSP00000397322.2:p.Thr286ProfsTer26
ENST00000442544.6:c.925del ENSP00000389140.2:p.Thr309ProfsTer26
ENST00000579883.1:n.136del
ENST00000584710.5:n.151del
NM_005215.3:c.925del NP_005206.2:p.Thr309ProfsTer26
XM_011525843.1:c.925del XP_011524145.1:p.Thr309ProfsTer26
XM_011525845.1:c.925del XP_011524147.1:p.Thr309ProfsTer26
XM_011525846.1:c.925del XP_011524148.1:p.Thr309ProfsTer26
XM_017025568.1:c.925del XP_016881057.1:p.Thr309ProfsTer26
XM_017025569.1:c.925del XP_016881058.1:p.Thr309ProfsTer26
NM_005215.4:c.925del MANE Select NP_005206.2:p.Thr309ProfsTer26
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