Canonical Allele Identifier: CA16616070
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 405500
ClinVar RCV Id: RCV000481914 RCV002230766
dbSNP Id: rs1060500742
MyVariant Identifiers: chr18:g.48584555_48584562del (hg19) chr18:g.51058185_51058192del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51058185_51058192del , CM000680.2:g.51058185_51058192del GRCh38
NC_000018.9:g.48584555_48584562del , CM000680.1:g.48584555_48584562del GRCh37
NC_000018.8:g.46838553_46838560del NCBI36
NG_013013.2:g.95146_95153del , LRG_318:g.95146_95153del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.728_735del ENSP00000465878.2:p.Gly243AlafsTer18
ENST00000589076.6:c.728_735del ENSP00000466934.2:p.Gly243AlafsTer18
ENST00000589941.2:c.728_735del ENSP00000465874.2:p.Gly243AlafsTer18
ENST00000590061.2:c.728_735del ENSP00000464772.2:p.Gly243AlafsTer18
ENST00000593223.2:c.728_735del ENSP00000466118.2:p.Gly243AlafsTer18
ENST00000611848.2:c.728_735del ENSP00000478613.2:p.Gly243AlafsTer18
ENST00000684953.1:n.2100_2107del
ENST00000685232.1:n.836_843del
ENST00000688307.1:n.156-1681_156-1674del
ENST00000688574.1:n.836_843del
ENST00000688903.1:n.942_949del
ENST00000690892.1:n.836_843del
ENST00000342988.8:c.728_735del MANE Select ENSP00000341551.3:p.Gly243AlafsTer18
ENST00000342988.7:c.728_735del ENSP00000341551.3:p.Gly243AlafsTer18
ENST00000398417.6:c.728_735del ENSP00000381452.1:p.Gly243AlafsTer18
ENST00000588745.5:c.667+3192_667+3199del ENSP00000464901.1:n.667+3192_667+3199del
ENST00000591126.5:n.2729_2736del
ENST00000592186.5:c.728_735del ENSP00000468611.1:p.Gly243AlafsTer18
NM_005359.5:c.728_735del , LRG_318t1:c.728_735del NP_005350.1:p.Gly243AlafsTer18
NM_005359.6:c.728_735del MANE Select NP_005350.1:p.Gly243AlafsTer18
Search 100 bp 5'
Search 100 bp 3'