Canonical Allele Identifier: CA658761283

Gene: SMAD4

Linked Data

• PubMed: PMID:20101697

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078397_51078398dup , CM000680.2:g.51078397_51078398dup	GRCh38
NC_000018.9:g.48604767_48604768dup , CM000680.1:g.48604767_48604768dup	GRCh37
NC_000018.8:g.46858765_46858766dup	NCBI36
NG_013013.2:g.115358_115359dup , LRG_318:g.115358_115359dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1589_1590dup	ENSP00000465878.2:p.Arg531ThrfsTer7
ENST00000589076.6:c.1589_1590dup	ENSP00000466934.2:p.Arg531ThrfsTer7
ENST00000589941.2:c.1589_1590dup	ENSP00000465874.2:p.Arg531ThrfsTer7
ENST00000590061.2:c.1589_1590dup	ENSP00000464772.2:p.Arg531ThrfsTer7
ENST00000593223.2:c.*1586_*1587dup	ENSP00000466118.2:n.*1586_*1587dup
ENST00000611848.2:c.*241_*242dup	ENSP00000478613.2:n.*241_*242dup
ENST00000684953.1:n.3604_3605dup
ENST00000685090.1:n.3519_3520dup
ENST00000685232.1:n.1810_1811dup
ENST00000688574.1:n.1697_1698dup
ENST00000691124.1:n.4550_4551dup
ENST00000342988.8:c.1589_1590dup MANE Select	ENSP00000341551.3:p.Arg531ThrfsTer7
ENST00000342988.7:c.1589_1590dup	ENSP00000341551.3:p.Arg531ThrfsTer7
ENST00000398417.6:c.1589_1590dup	ENSP00000381452.1:p.Arg531ThrfsTer7
ENST00000586253.1:n.311_312dup
ENST00000588745.5:c.1301_1302dup	ENSP00000464901.1:p.Arg435ThrfsTer7
ENST00000591126.5:n.3590_3591dup
ENST00000592186.5:c.1236_1237dup	ENSP00000468611.1:n.1236_1237dup
ENST00000611848.1:c.902_903dup
NM_005359.5:c.1589_1590dup , LRG_318t1:c.1589_1590dup	NP_005350.1:p.Arg531ThrfsTer7
NM_005359.6:c.1589_1590dup MANE Select	NP_005350.1:p.Arg531ThrfsTer7