Canonical Allele Identifier: CA2697555510

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 2706400
• ClinVar RCV Id: RCV003596362

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078393_51078398del , CM000680.2:g.51078393_51078398del	GRCh38
NC_000018.9:g.48604763_48604768del , CM000680.1:g.48604763_48604768del	GRCh37
NC_000018.8:g.46858761_46858766del	NCBI36
NG_013013.2:g.115354_115359del , LRG_318:g.115354_115359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1585_1590del	ENSP00000465878.2:p.Leu529_His530del
ENST00000589076.6:c.1585_1590del	ENSP00000466934.2:p.Leu529_His530del
ENST00000589941.2:c.1585_1590del	ENSP00000465874.2:p.Leu529_His530del
ENST00000590061.2:c.1585_1590del	ENSP00000464772.2:p.Leu529_His530del
ENST00000593223.2:c.*1582_*1587del	ENSP00000466118.2:n.*1582_*1587del
ENST00000611848.2:c.*237_*242del	ENSP00000478613.2:n.*237_*242del
ENST00000684953.1:n.3600_3605del
ENST00000685090.1:n.3515_3520del
ENST00000685232.1:n.1806_1811del
ENST00000688574.1:n.1693_1698del
ENST00000691124.1:n.4546_4551del
ENST00000342988.8:c.1585_1590del MANE Select	ENSP00000341551.3:p.Leu529_His530del
ENST00000342988.7:c.1585_1590del	ENSP00000341551.3:p.Leu529_His530del
ENST00000398417.6:c.1585_1590del	ENSP00000381452.1:p.Leu529_His530del
ENST00000586253.1:n.307_312del
ENST00000588745.5:c.1297_1302del	ENSP00000464901.1:p.Leu433_His434del
ENST00000591126.5:n.3586_3591del
ENST00000592186.5:c.1232_1237del	ENSP00000468611.1:n.1232_1237del
ENST00000611848.1:c.898_903del
NM_005359.5:c.1585_1590del , LRG_318t1:c.1585_1590del	NP_005350.1:p.Leu529_His530del
NM_005359.6:c.1585_1590del MANE Select	NP_005350.1:p.Leu529_His530del