Canonical Allele Identifier: CA2580095822

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1774100
• ClinVar RCV Id: RCV002390017

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078315_51078316insATCC , CM000680.2:g.51078315_51078316insATCC	GRCh38
NC_000018.9:g.48604685_48604686insATCC , CM000680.1:g.48604685_48604686insATCC	GRCh37
NC_000018.8:g.46858683_46858684insATCC	NCBI36
NG_013013.2:g.115276_115277insATCC , LRG_318:g.115276_115277insATCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1507_1508insATCC	ENSP00000465878.2:p.Met503AsnfsTer25
ENST00000589076.6:c.1507_1508insATCC	ENSP00000466934.2:p.Met503AsnfsTer25
ENST00000589941.2:c.1507_1508insATCC	ENSP00000465874.2:p.Met503AsnfsTer25
ENST00000590061.2:c.1507_1508insATCC	ENSP00000464772.2:p.Met503AsnfsTer25
ENST00000593223.2:c.*1504_*1505insATCC	ENSP00000466118.2:n.*1504_*1505insATCC
ENST00000611848.2:c.*159_*160insATCC	ENSP00000478613.2:n.*159_*160insATCC
ENST00000684953.1:n.3522_3523insATCC
ENST00000685090.1:n.3437_3438insATCC
ENST00000685232.1:n.1728_1729insATCC
ENST00000688574.1:n.1615_1616insATCC
ENST00000691124.1:n.4468_4469insATCC
ENST00000342988.8:c.1507_1508insATCC MANE Select	ENSP00000341551.3:p.Met503AsnfsTer25
ENST00000342988.7:c.1507_1508insATCC	ENSP00000341551.3:p.Met503AsnfsTer25
ENST00000398417.6:c.1507_1508insATCC	ENSP00000381452.1:p.Met503AsnfsTer25
ENST00000586253.1:n.229_230insATCC
ENST00000588745.5:c.1219_1220insATCC	ENSP00000464901.1:p.Met407AsnfsTer25
ENST00000591126.5:n.3508_3509insATCC
ENST00000592186.5:c.1154_1155insATCC	ENSP00000468611.1:n.1154_1155insATCC
ENST00000611848.1:c.820_821insATCC
NM_005359.5:c.1507_1508insATCC , LRG_318t1:c.1507_1508insATCC	NP_005350.1:p.Met503AsnfsTer25
NM_005359.6:c.1507_1508insATCC MANE Select	NP_005350.1:p.Met503AsnfsTer25