Canonical Allele Identifier: CA8966031

Gene: SMAD4

Linked Data

• dbSNP Id: rs751395453
• ExAC: 18:48593559 T / TCTTTGATTTGCGTCAGTGTCATCGACAGA
• gnomAD v4: 18-51067189-T-TCTTTGATTTGCGTCAGTGTCATCGACAGA
• MyVariant Identifiers: chr18:g.48593559_48593560insCTTTGATTTGCGTCAGTGTCATCGACAGA (hg19) ; chr18:g.51067189_51067190insCTTTGATTTGCGTCAGTGTCATCGACAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067189_51067190insCTTTGATTTGCGTCAGTGTCATCGACAGA , CM000680.2:g.51067189_51067190insCTTTGATTTGCGTCAGTGTCATCGACAGA	GRCh38
NC_000018.9:g.48593559_48593560insCTTTGATTTGCGTCAGTGTCATCGACAGA , CM000680.1:g.48593559_48593560insCTTTGATTTGCGTCAGTGTCATCGACAGA	GRCh37
NC_000018.8:g.46847557_46847558insCTTTGATTTGCGTCAGTGTCATCGACAGA	NCBI36
NG_013013.2:g.104150_104151insCTTTGATTTGCGTCAGTGTCATCGACAGA , LRG_318:g.104150_104151insCTTTGATTTGCGTCAGTGTCATCGACAGA

Transcript Alleles

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