Canonical Allele Identifier: CA629926714

Gene: SMAD4

Linked Data

• dbSNP Id: rs1281411982
• gnomAD v2: 18-48593548-A-ACACCTTTGCC
• MyVariant Identifiers: chr18:g.48593548_48593549insCACCTTTGCC (hg19) ; chr18:g.51067178_51067179insCACCTTTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067178_51067179insCACCTTTGCC , CM000680.2:g.51067178_51067179insCACCTTTGCC	GRCh38
NC_000018.9:g.48593548_48593549insCACCTTTGCC , CM000680.1:g.48593548_48593549insCACCTTTGCC	GRCh37
NC_000018.8:g.46847546_46847547insCACCTTTGCC	NCBI36
NG_013013.2:g.104139_104140insCACCTTTGCC , LRG_318:g.104139_104140insCACCTTTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1299_1300insCACCTTTGCC	ENSP00000465878.2:p.Tyr434HisfsTer9
ENST00000589076.6:c.1299_1300insCACCTTTGCC	ENSP00000466934.2:p.Tyr434HisfsTer9
ENST00000589941.2:c.1299_1300insCACCTTTGCC	ENSP00000465874.2:p.Tyr434HisfsTer9
ENST00000590061.2:c.1299_1300insCACCTTTGCC	ENSP00000464772.2:p.Tyr434HisfsTer9
ENST00000593223.2:c.1299_1300insCACCTTTGCC	ENSP00000466118.2:p.Tyr434HisfsTer9
ENST00000611848.2:c.1299_1300insCACCTTTGCC	ENSP00000478613.2:p.Tyr434HisfsTer9
ENST00000684953.1:n.2671_2672insCACCTTTGCC
ENST00000685090.1:n.1750_1751insCACCTTTGCC
ENST00000685232.1:n.1407_1408insCACCTTTGCC
ENST00000688574.1:n.1407_1408insCACCTTTGCC
ENST00000691124.1:n.2781_2782insCACCTTTGCC
ENST00000342988.8:c.1299_1300insCACCTTTGCC MANE Select	ENSP00000341551.3:p.Tyr434HisfsTer9
ENST00000342988.7:c.1299_1300insCACCTTTGCC	ENSP00000341551.3:p.Tyr434HisfsTer9
ENST00000398417.6:c.1299_1300insCACCTTTGCC	ENSP00000381452.1:p.Tyr434HisfsTer9
ENST00000588745.5:c.1011_1012insCACCTTTGCC	ENSP00000464901.1:p.Tyr338HisfsTer9
ENST00000590499.1:n.357_358insCACCTTTGCC
ENST00000591126.5:n.3300_3301insCACCTTTGCC
ENST00000592186.5:c.955+7262_955+7263insCACCTTTGCC	ENSP00000468611.1:n.955+7262_955+7263insCACCTTTGCC
ENST00000593223.1:c.66_67insCACCTTTGCC	ENSP00000466118.1:p.Tyr23HisfsTer9
ENST00000611848.1:c.499_500insCACCTTTGCC
NM_005359.5:c.1299_1300insCACCTTTGCC , LRG_318t1:c.1299_1300insCACCTTTGCC	NP_005350.1:p.Tyr434HisfsTer9
NM_005359.6:c.1299_1300insCACCTTTGCC MANE Select	NP_005350.1:p.Tyr434HisfsTer9