Canonical Allele Identifier: CA503993823

Gene: SMAD4

Linked Data

• MyVariant Identifiers: chr18:g.48584520_48584521insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058150_51058151insG , CM000680.2:g.51058150_51058151insG	GRCh38
NC_000018.9:g.48584520_48584521insG , CM000680.1:g.48584520_48584521insG	GRCh37
NC_000018.8:g.46838518_46838519insG	NCBI36
NG_013013.2:g.95111_95112insG , LRG_318:g.95111_95112insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.693_694insG	ENSP00000465878.2:p.Ser232GlufsTer3
ENST00000589076.6:c.693_694insG	ENSP00000466934.2:p.Ser232GlufsTer3
ENST00000589941.2:c.693_694insG	ENSP00000465874.2:p.Ser232GlufsTer3
ENST00000590061.2:c.693_694insG	ENSP00000464772.2:p.Ser232GlufsTer3
ENST00000593223.2:c.693_694insG	ENSP00000466118.2:p.Ser232GlufsTer3
ENST00000611848.2:c.693_694insG	ENSP00000478613.2:p.Ser232GlufsTer3
ENST00000684953.1:n.2065_2066insG
ENST00000685232.1:n.801_802insG
ENST00000688307.1:n.156-1716_156-1715insG
ENST00000688574.1:n.801_802insG
ENST00000688903.1:n.907_908insG
ENST00000690892.1:n.801_802insG
ENST00000342988.8:c.693_694insG MANE Select	ENSP00000341551.3:p.Ser232GlufsTer3
ENST00000342988.7:c.693_694insG	ENSP00000341551.3:p.Ser232GlufsTer3
ENST00000398417.6:c.693_694insG	ENSP00000381452.1:p.Ser232GlufsTer3
ENST00000588745.5:c.667+3157_667+3158insG	ENSP00000464901.1:n.667+3157_667+3158insG
ENST00000591126.5:n.2694_2695insG
ENST00000592186.5:c.693_694insG	ENSP00000468611.1:p.Ser232GlufsTer3
ENST00000592911.5:n.471_472insG
NM_005359.5:c.693_694insG , LRG_318t1:c.693_694insG	NP_005350.1:p.Ser232GlufsTer3
NM_005359.6:c.693_694insG MANE Select	NP_005350.1:p.Ser232GlufsTer3