Canonical Allele Identifier: CA2580612997

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 2576329
• ClinVar RCV Id: RCV003322388

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078337dup , CM000680.2:g.51078337dup	GRCh38
NC_000018.9:g.48604707dup , CM000680.1:g.48604707dup	GRCh37
NC_000018.8:g.46858705dup	NCBI36
NG_013013.2:g.115298dup , LRG_318:g.115298dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1529dup	ENSP00000465878.2:p.Pro511ThrfsTer16
ENST00000589076.6:c.1529dup	ENSP00000466934.2:p.Pro511ThrfsTer16
ENST00000589941.2:c.1529dup	ENSP00000465874.2:p.Pro511ThrfsTer16
ENST00000590061.2:c.1529dup	ENSP00000464772.2:p.Pro511ThrfsTer16
ENST00000593223.2:c.*1526dup	ENSP00000466118.2:n.*1526dup
ENST00000611848.2:c.*181dup	ENSP00000478613.2:n.*181dup
ENST00000684953.1:n.3544dup
ENST00000685090.1:n.3459dup
ENST00000685232.1:n.1750dup
ENST00000688574.1:n.1637dup
ENST00000691124.1:n.4490dup
ENST00000342988.8:c.1529dup MANE Select	ENSP00000341551.3:p.Pro511ThrfsTer16
ENST00000342988.7:c.1529dup	ENSP00000341551.3:p.Pro511ThrfsTer16
ENST00000398417.6:c.1529dup	ENSP00000381452.1:p.Pro511ThrfsTer16
ENST00000586253.1:n.251dup
ENST00000588745.5:c.1241dup	ENSP00000464901.1:p.Pro415ThrfsTer16
ENST00000591126.5:n.3530dup
ENST00000592186.5:c.1176dup	ENSP00000468611.1:n.1176dup
ENST00000611848.1:c.842dup
NM_005359.5:c.1529dup , LRG_318t1:c.1529dup	NP_005350.1:p.Pro511ThrfsTer16
NM_005359.6:c.1529dup MANE Select	NP_005350.1:p.Pro511ThrfsTer16