Canonical Allele Identifier: CA10580972

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 233889
• ClinVar RCV Id: RCV002310818
• dbSNP Id: rs786203560
• MyVariant Identifiers: chr18:g.48573569del (hg19) ; chr18:g.51047199del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047199del , CM000680.2:g.51047199del	GRCh38
NC_000018.9:g.48573569del , CM000680.1:g.48573569del	GRCh37
NC_000018.8:g.46827567del	NCBI36
NG_013013.2:g.84160del , LRG_318:g.84160del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.153del	ENSP00000465878.2:p.Asp52MetfsTer6
ENST00000589076.6:c.153del	ENSP00000466934.2:p.Asp52MetfsTer6
ENST00000589941.2:c.153del	ENSP00000465874.2:p.Asp52MetfsTer6
ENST00000590061.2:c.153del	ENSP00000464772.2:p.Asp52MetfsTer6
ENST00000593223.2:c.153del	ENSP00000466118.2:p.Asp52MetfsTer6
ENST00000611848.2:c.153del	ENSP00000478613.2:p.Asp52MetfsTer6
ENST00000342988.8:c.153del MANE Select	ENSP00000341551.3:p.Asp52MetfsTer6
ENST00000342988.7:c.153del	ENSP00000341551.3:p.Asp52MetfsTer6
ENST00000398417.6:c.153del	ENSP00000381452.1:p.Asp52MetfsTer6
ENST00000588745.5:c.153del	ENSP00000464901.1:p.Asp52MetfsTer6
ENST00000588860.5:c.153del	ENSP00000465878.1:p.Asp52MetfsTer6
ENST00000589076.5:c.153del	ENSP00000466934.1:p.Asp52MetfsTer6
ENST00000589706.1:n.21del
ENST00000589941.1:c.153del	ENSP00000465874.1:p.Asp52MetfsTer6
ENST00000590061.1:c.153del	ENSP00000464772.1:p.Asp52MetfsTer6
ENST00000590722.2:c.*176del	ENSP00000465737.1:n.*176del
ENST00000591914.5:c.153del	ENSP00000466941.1:p.Asp52MetfsTer6
ENST00000592186.5:c.153del	ENSP00000468611.1:p.Asp52MetfsTer6
ENST00000592911.5:n.28-1487del
NM_005359.5:c.153del , LRG_318t1:c.153del	NP_005350.1:p.Asp52MetfsTer6
NM_005359.6:c.153del MANE Select	NP_005350.1:p.Asp52MetfsTer6