Canonical Allele Identifier: CA629926719

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 3069358
• ClinVar RCV Id: RCV004007902
• gnomAD v2: 18-48593560-T-TTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
• gnomAD v4: 18-51067190-T-TTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
• MyVariant Identifiers: chr18:g.48593560_48593561insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC (hg19) ; chr18:g.51067190_51067191insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067190_51067191insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC , CM000680.2:g.51067190_51067191insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	GRCh38
NC_000018.9:g.48593560_48593561insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC , CM000680.1:g.48593560_48593561insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	GRCh37
NC_000018.8:g.46847558_46847559insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	NCBI36
NG_013013.2:g.104151_104152insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC , LRG_318:g.104151_104152insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	ENSP00000465878.2:n.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACA...
ENST00000589076.6:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	ENSP00000466934.2:n.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACA...
ENST00000589941.2:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	ENSP00000465874.2:n.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACA...
ENST00000590061.2:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	ENSP00000464772.2:n.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACA...
ENST00000593223.2:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	ENSP00000466118.2:n.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACA...
ENST00000611848.2:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	ENSP00000478613.2:n.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACA...
ENST00000684953.1:n.2680+3_2680+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
ENST00000685090.1:n.1759+3_1759+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
ENST00000685232.1:n.1416+3_1416+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
ENST00000688574.1:n.1416+3_1416+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
ENST00000691124.1:n.2790+3_2790+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
ENST00000342988.8:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC MANE Select	ENSP00000341551.3:n.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACA...
ENST00000342988.7:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	ENSP00000341551.3:n.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACA...
ENST00000398417.6:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	ENSP00000381452.1:n.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACA...
ENST00000588745.5:c.1020+3_1020+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	ENSP00000464901.1:n.1020+3_1020+4insTTGATTTGCGTCAGTGTCATCGACA...
ENST00000590499.1:n.366+3_366+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
ENST00000591126.5:n.3309+3_3309+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
ENST00000592186.5:c.955+7274_955+7275insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	ENSP00000468611.1:n.955+7274_955+7275insTTGATTTGCGTCAGTGTCATC...
ENST00000593223.1:c.75+3_75+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	ENSP00000466118.1:n.75+3_75+4insTTGATTTGCGTCAGTGTCATCGACAGATG...
ENST00000611848.1:c.508+3_508+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC
NM_005359.5:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC , LRG_318t1:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC	NP_005350.1:n.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCA...
NM_005359.6:c.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCAGCAGCAGGCGGCTACTGCACAAGCTGC MANE Select	NP_005350.1:n.1308+3_1308+4insTTGATTTGCGTCAGTGTCATCGACAGATGCA...