Canonical Allele Identifier: CA503873997

Gene: SMAD4

Linked Data

• MyVariant Identifiers: chr18:g.48604687_48604688insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078317_51078318insT , CM000680.2:g.51078317_51078318insT	GRCh38
NC_000018.9:g.48604687_48604688insT , CM000680.1:g.48604687_48604688insT	GRCh37
NC_000018.8:g.46858685_46858686insT	NCBI36
NG_013013.2:g.115278_115279insT , LRG_318:g.115278_115279insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1509_1510insT	ENSP00000465878.2:p.Ser504Ter
ENST00000589076.6:c.1509_1510insT	ENSP00000466934.2:p.Ser504Ter
ENST00000589941.2:c.1509_1510insT	ENSP00000465874.2:p.Ser504Ter
ENST00000590061.2:c.1509_1510insT	ENSP00000464772.2:p.Ser504Ter
ENST00000593223.2:c.*1506_*1507insT	ENSP00000466118.2:n.*1506_*1507insT
ENST00000611848.2:c.*161_*162insT	ENSP00000478613.2:n.*161_*162insT
ENST00000684953.1:n.3524_3525insT
ENST00000685090.1:n.3439_3440insT
ENST00000685232.1:n.1730_1731insT
ENST00000688574.1:n.1617_1618insT
ENST00000691124.1:n.4470_4471insT
ENST00000342988.8:c.1509_1510insT MANE Select	ENSP00000341551.3:p.Ser504Ter
ENST00000342988.7:c.1509_1510insT	ENSP00000341551.3:p.Ser504Ter
ENST00000398417.6:c.1509_1510insT	ENSP00000381452.1:p.Ser504Ter
ENST00000586253.1:n.231_232insT
ENST00000588745.5:c.1221_1222insT	ENSP00000464901.1:p.Ser408Ter
ENST00000591126.5:n.3510_3511insT
ENST00000592186.5:c.1156_1157insT	ENSP00000468611.1:n.1156_1157insT
ENST00000611848.1:c.822_823insT
NM_005359.5:c.1509_1510insT , LRG_318t1:c.1509_1510insT	NP_005350.1:p.Ser504Ter
NM_005359.6:c.1509_1510insT MANE Select	NP_005350.1:p.Ser504Ter