Canonical Allele Identifier: CA645609145

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 3148836
• ClinVar RCV Id: RCV004442735
• COSMIC: COSM5079016

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058406del , CM000680.2:g.51058406del	GRCh38
NC_000018.9:g.48584776del , CM000680.1:g.48584776del	GRCh37
NC_000018.8:g.46838774del	NCBI36
NG_013013.2:g.95367del , LRG_318:g.95367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.854del	ENSP00000465878.2:p.Asn285ThrfsTer?
ENST00000589076.6:c.854del	ENSP00000466934.2:p.Asn285ThrfsTer?
ENST00000589941.2:c.854del	ENSP00000465874.2:p.Asn285ThrfsTer?
ENST00000590061.2:c.854del	ENSP00000464772.2:p.Asn285ThrfsTer?
ENST00000593223.2:c.854del	ENSP00000466118.2:p.Asn285ThrfsTer?
ENST00000611848.2:c.854del	ENSP00000478613.2:p.Asn285ThrfsTer?
ENST00000684953.1:n.2226del
ENST00000685232.1:n.962del
ENST00000688307.1:n.156-1460del
ENST00000688574.1:n.962del
ENST00000688903.1:n.1068del
ENST00000690892.1:n.962del
ENST00000342988.8:c.854del MANE Select	ENSP00000341551.3:p.Asn285ThrfsTer?
ENST00000342988.7:c.854del	ENSP00000341551.3:p.Asn285ThrfsTer?
ENST00000398417.6:c.854del	ENSP00000381452.1:p.Asn285ThrfsTer?
ENST00000588745.5:c.667+3413del	ENSP00000464901.1:n.667+3413del
ENST00000591126.5:n.2855del
ENST00000592186.5:c.854del	ENSP00000468611.1:p.Asn285ThrfsTer?
ENST00000611848.1:c.54del
NM_005359.5:c.854del , LRG_318t1:c.854del	NP_005350.1:p.Asn285ThrfsTer?
NM_005359.6:c.854del MANE Select	NP_005350.1:p.Asn285ThrfsTer?