Canonical Allele Identifier: CA8965993

Gene: SMAD4

Linked Data

• dbSNP Id: rs762236281
• ExAC: 18:48591979 A / ACATAGGCAAAGGTGTGCAG
• gnomAD v2: 18-48591979-A-ACATAGGCAAAGGTGTGCAG
• gnomAD v4: 18-51065609-A-ACATAGGCAAAGGTGTGCAG
• MyVariant Identifiers: chr18:g.48591979_48591980insCATAGGCAAAGGTGTGCAG (hg19) ; chr18:g.51065609_51065610insCATAGGCAAAGGTGTGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065609_51065610insCATAGGCAAAGGTGTGCAG , CM000680.2:g.51065609_51065610insCATAGGCAAAGGTGTGCAG	GRCh38
NC_000018.9:g.48591979_48591980insCATAGGCAAAGGTGTGCAG , CM000680.1:g.48591979_48591980insCATAGGCAAAGGTGTGCAG	GRCh37
NC_000018.8:g.46845977_46845978insCATAGGCAAAGGTGTGCAG	NCBI36
NG_013013.2:g.102570_102571insCATAGGCAAAGGTGTGCAG , LRG_318:g.102570_102571insCATAGGCAAAGGTGTGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG	ENSP00000465878.2:n.1139+3_1139+4insCATAGGCAAAGGTGTGCAG
ENST00000589076.6:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG	ENSP00000466934.2:n.1139+3_1139+4insCATAGGCAAAGGTGTGCAG
ENST00000589941.2:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG	ENSP00000465874.2:n.1139+3_1139+4insCATAGGCAAAGGTGTGCAG
ENST00000590061.2:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG	ENSP00000464772.2:n.1139+3_1139+4insCATAGGCAAAGGTGTGCAG
ENST00000593223.2:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG	ENSP00000466118.2:n.1139+3_1139+4insCATAGGCAAAGGTGTGCAG
ENST00000611848.2:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG	ENSP00000478613.2:n.1139+3_1139+4insCATAGGCAAAGGTGTGCAG
ENST00000684953.1:n.2511+3_2511+4insCATAGGCAAAGGTGTGCAG
ENST00000685090.1:n.1590+3_1590+4insCATAGGCAAAGGTGTGCAG
ENST00000685232.1:n.1247+3_1247+4insCATAGGCAAAGGTGTGCAG
ENST00000688307.1:n.393_394insCATAGGCAAAGGTGTGCAG
ENST00000688574.1:n.1247+3_1247+4insCATAGGCAAAGGTGTGCAG
ENST00000688903.1:n.1356_1357insCATAGGCAAAGGTGTGCAG
ENST00000691124.1:n.2621+3_2621+4insCATAGGCAAAGGTGTGCAG
ENST00000342988.8:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG MANE Select	ENSP00000341551.3:n.1139+3_1139+4insCATAGGCAAAGGTGTGCAG
ENST00000342988.7:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG	ENSP00000341551.3:n.1139+3_1139+4insCATAGGCAAAGGTGTGCAG
ENST00000398417.6:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG	ENSP00000381452.1:n.1139+3_1139+4insCATAGGCAAAGGTGTGCAG
ENST00000588745.5:c.851+3_851+4insCATAGGCAAAGGTGTGCAG	ENSP00000464901.1:n.851+3_851+4insCATAGGCAAAGGTGTGCAG
ENST00000591126.5:n.3140+3_3140+4insCATAGGCAAAGGTGTGCAG
ENST00000592186.5:c.955+5693_955+5694insCATAGGCAAAGGTGTGCAG	ENSP00000468611.1:n.955+5693_955+5694insCATAGGCAAAGGTGTGCAG
ENST00000611848.1:c.339+3_339+4insCATAGGCAAAGGTGTGCAG
NM_005359.5:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG , LRG_318t1:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG	NP_005350.1:n.1139+3_1139+4insCATAGGCAAAGGTGTGCAG
NM_005359.6:c.1139+3_1139+4insCATAGGCAAAGGTGTGCAG MANE Select	NP_005350.1:n.1139+3_1139+4insCATAGGCAAAGGTGTGCAG