Canonical Allele Identifier: CA629926723

Gene: SMAD4

Linked Data

• gnomAD v2: 18-48593561-A-ACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG
• gnomAD v3: 18-51067191-A-ACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG
• gnomAD v4: 18-51067191-A-ACTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG
• MyVariant Identifiers: chr18:g.48593561_48593562insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG (hg19) ; chr18:g.51067191_51067192insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067191_51067192insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG , CM000680.2:g.51067191_51067192insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	GRCh38
NC_000018.9:g.48593561_48593562insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG , CM000680.1:g.48593561_48593562insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	GRCh37
NC_000018.8:g.46847559_46847560insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	NCBI36
NG_013013.2:g.104152_104153insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG , LRG_318:g.104152_104153insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	ENSP00000465878.2:n.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCA...
ENST00000589076.6:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	ENSP00000466934.2:n.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCA...
ENST00000589941.2:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	ENSP00000465874.2:n.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCA...
ENST00000590061.2:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	ENSP00000464772.2:n.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCA...
ENST00000593223.2:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	ENSP00000466118.2:n.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCA...
ENST00000611848.2:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	ENSP00000478613.2:n.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCA...
ENST00000684953.1:n.2680+4_2680+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG
ENST00000685090.1:n.1759+4_1759+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG
ENST00000685232.1:n.1416+4_1416+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG
ENST00000688574.1:n.1416+4_1416+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG
ENST00000691124.1:n.2790+4_2790+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG
ENST00000342988.8:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG MANE Select	ENSP00000341551.3:n.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCA...
ENST00000342988.7:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	ENSP00000341551.3:n.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCA...
ENST00000398417.6:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	ENSP00000381452.1:n.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCA...
ENST00000588745.5:c.1020+4_1020+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	ENSP00000464901.1:n.1020+4_1020+5insCTGCACAAGCTGCAGCAGCTGCCCA...
ENST00000590499.1:n.366+4_366+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG
ENST00000591126.5:n.3309+4_3309+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG
ENST00000592186.5:c.955+7275_955+7276insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	ENSP00000468611.1:n.955+7275_955+7276insCTGCACAAGCTGCAGCAGCTG...
ENST00000593223.1:c.75+4_75+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	ENSP00000466118.1:n.75+4_75+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCA...
ENST00000611848.1:c.508+4_508+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG
NM_005359.5:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG , LRG_318t1:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG	NP_005350.1:n.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGC...
NM_005359.6:c.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGCAGCCGTG MANE Select	NP_005350.1:n.1308+4_1308+5insCTGCACAAGCTGCAGCAGCTGCCCAGGCAGC...