Canonical Allele Identifier: CA2580095821

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1735712
• ClinVar RCV Id: RCV002355622

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067037_51067038insTG , CM000680.2:g.51067037_51067038insTG	GRCh38
NC_000018.9:g.48593407_48593408insTG , CM000680.1:g.48593407_48593408insTG	GRCh37
NC_000018.8:g.46847405_46847406insTG	NCBI36
NG_013013.2:g.103998_103999insTG , LRG_318:g.103998_103999insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1158_1159insTG	ENSP00000465878.2:p.Val387TrpfsTer29
ENST00000589076.6:c.1158_1159insTG	ENSP00000466934.2:p.Val387TrpfsTer29
ENST00000589941.2:c.1158_1159insTG	ENSP00000465874.2:p.Val387TrpfsTer29
ENST00000590061.2:c.1158_1159insTG	ENSP00000464772.2:p.Val387TrpfsTer29
ENST00000593223.2:c.1158_1159insTG	ENSP00000466118.2:p.Val387TrpfsTer29
ENST00000611848.2:c.1158_1159insTG	ENSP00000478613.2:p.Val387TrpfsTer29
ENST00000684953.1:n.2530_2531insTG
ENST00000685090.1:n.1609_1610insTG
ENST00000685232.1:n.1266_1267insTG
ENST00000688574.1:n.1266_1267insTG
ENST00000691124.1:n.2640_2641insTG
ENST00000342988.8:c.1158_1159insTG MANE Select	ENSP00000341551.3:p.Val387TrpfsTer29
ENST00000342988.7:c.1158_1159insTG	ENSP00000341551.3:p.Val387TrpfsTer29
ENST00000398417.6:c.1158_1159insTG	ENSP00000381452.1:p.Val387TrpfsTer29
ENST00000588745.5:c.870_871insTG	ENSP00000464901.1:p.Val291TrpfsTer29
ENST00000590499.1:n.216_217insTG
ENST00000591126.5:n.3159_3160insTG
ENST00000592186.5:c.955+7121_955+7122insTG	ENSP00000468611.1:n.955+7121_955+7122insTG
ENST00000611848.1:c.358_359insTG
NM_005359.5:c.1158_1159insTG , LRG_318t1:c.1158_1159insTG	NP_005350.1:p.Val387TrpfsTer29
NM_005359.6:c.1158_1159insTG MANE Select	NP_005350.1:p.Val387TrpfsTer29