Canonical Allele Identifier: CA2641839423

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078378-T-TTACACCGGGCCCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078378_51078379insTACACCGGGCCCTCC , CM000680.2:g.51078378_51078379insTACACCGGGCCCTCC	GRCh38
NC_000018.9:g.48604748_48604749insTACACCGGGCCCTCC , CM000680.1:g.48604748_48604749insTACACCGGGCCCTCC	GRCh37
NC_000018.8:g.46858746_46858747insTACACCGGGCCCTCC	NCBI36
NG_013013.2:g.115339_115340insTACACCGGGCCCTCC , LRG_318:g.115339_115340insTACACCGGGCCCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1570_1571insTACACCGGGCCCTCC	ENSP00000465878.2:p.Trp524delinsLeuHisArgAlaLeuArg
ENST00000589076.6:c.1570_1571insTACACCGGGCCCTCC	ENSP00000466934.2:p.Trp524delinsLeuHisArgAlaLeuArg
ENST00000589941.2:c.1570_1571insTACACCGGGCCCTCC	ENSP00000465874.2:p.Trp524delinsLeuHisArgAlaLeuArg
ENST00000590061.2:c.1570_1571insTACACCGGGCCCTCC	ENSP00000464772.2:p.Trp524delinsLeuHisArgAlaLeuArg
ENST00000593223.2:c.*1567_*1568insTACACCGGGCCCTCC	ENSP00000466118.2:n.*1567_*1568insTACACCGGGCCCTCC
ENST00000611848.2:c.*222_*223insTACACCGGGCCCTCC	ENSP00000478613.2:n.*222_*223insTACACCGGGCCCTCC
ENST00000684953.1:n.3585_3586insTACACCGGGCCCTCC
ENST00000685090.1:n.3500_3501insTACACCGGGCCCTCC
ENST00000685232.1:n.1791_1792insTACACCGGGCCCTCC
ENST00000688574.1:n.1678_1679insTACACCGGGCCCTCC
ENST00000691124.1:n.4531_4532insTACACCGGGCCCTCC
ENST00000342988.8:c.1570_1571insTACACCGGGCCCTCC MANE Select	ENSP00000341551.3:p.Trp524delinsLeuHisArgAlaLeuArg
ENST00000342988.7:c.1570_1571insTACACCGGGCCCTCC	ENSP00000341551.3:p.Trp524delinsLeuHisArgAlaLeuArg
ENST00000398417.6:c.1570_1571insTACACCGGGCCCTCC	ENSP00000381452.1:p.Trp524delinsLeuHisArgAlaLeuArg
ENST00000586253.1:n.292_293insTACACCGGGCCCTCC
ENST00000588745.5:c.1282_1283insTACACCGGGCCCTCC	ENSP00000464901.1:p.Trp428delinsLeuHisArgAlaLeuArg
ENST00000591126.5:n.3571_3572insTACACCGGGCCCTCC
ENST00000592186.5:c.1217_1218insTACACCGGGCCCTCC	ENSP00000468611.1:n.1217_1218insTACACCGGGCCCTCC
ENST00000611848.1:c.883_884insTACACCGGGCCCTCC
NM_005359.5:c.1570_1571insTACACCGGGCCCTCC , LRG_318t1:c.1570_1571insTACACCGGGCCCTCC	NP_005350.1:p.Trp524delinsLeuHisArgAlaLeuArg
NM_005359.6:c.1570_1571insTACACCGGGCCCTCC MANE Select	NP_005350.1:p.Trp524delinsLeuHisArgAlaLeuArg