Canonical Allele Identifier: CA990250612

Gene: SMAD4

Linked Data

• gnomAD v3: 18-51067189-T-TCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG
• gnomAD v4: 18-51067189-T-TCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067189_51067190insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG , CM000680.2:g.51067189_51067190insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	GRCh38
NC_000018.9:g.48593559_48593560insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG , CM000680.1:g.48593559_48593560insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	GRCh37
NC_000018.8:g.46847557_46847558insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	NCBI36
NG_013013.2:g.104150_104151insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG , LRG_318:g.104150_104151insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	ENSP00000465878.2:n.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGA...
ENST00000589076.6:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	ENSP00000466934.2:n.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGA...
ENST00000589941.2:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	ENSP00000465874.2:n.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGA...
ENST00000590061.2:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	ENSP00000464772.2:n.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGA...
ENST00000593223.2:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	ENSP00000466118.2:n.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGA...
ENST00000611848.2:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	ENSP00000478613.2:n.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGA...
ENST00000684953.1:n.2680+2_2680+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG
ENST00000685090.1:n.1759+2_1759+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG
ENST00000685232.1:n.1416+2_1416+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG
ENST00000688574.1:n.1416+2_1416+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG
ENST00000691124.1:n.2790+2_2790+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG
ENST00000342988.8:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG MANE Select	ENSP00000341551.3:n.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGA...
ENST00000342988.7:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	ENSP00000341551.3:n.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGA...
ENST00000398417.6:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	ENSP00000381452.1:n.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGA...
ENST00000588745.5:c.1020+2_1020+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	ENSP00000464901.1:n.1020+2_1020+3insCTTTGATTTGCGTCAGTGTCATCGA...
ENST00000590499.1:n.366+2_366+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG
ENST00000591126.5:n.3309+2_3309+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG
ENST00000592186.5:c.955+7273_955+7274insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	ENSP00000468611.1:n.955+7273_955+7274insCTTTGATTTGCGTCAGTGTCA...
ENST00000593223.1:c.75+2_75+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	ENSP00000466118.1:n.75+2_75+3insCTTTGATTTGCGTCAGTGTCATCGACAGA...
ENST00000611848.1:c.508+2_508+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG
NM_005359.5:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG , LRG_318t1:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG	NP_005350.1:n.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATG...
NM_005359.6:c.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTGGCAGGAAACATCCCTGGCCCAGGATCAG MANE Select	NP_005350.1:n.1308+2_1308+3insCTTTGATTTGCGTCAGTGTCATCGACAGATG...