Canonical Allele Identifier: CA780227592

Gene: SMAD4

Linked Data

• dbSNP Id: rs1186403726
• MyVariant Identifiers: chr18:g.48591789_48591791del (hg19) ; chr18:g.51065419_51065421del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065419_51065421del , CM000680.2:g.51065419_51065421del	GRCh38
NC_000018.9:g.48591789_48591791del , CM000680.1:g.48591789_48591791del	GRCh37
NC_000018.8:g.46845787_46845789del	NCBI36
NG_013013.2:g.102380_102382del , LRG_318:g.102380_102382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.956-4_956-2del	ENSP00000465878.2:n.956-4_956-2del
ENST00000589076.6:c.956-4_956-2del	ENSP00000466934.2:n.956-4_956-2del
ENST00000589941.2:c.956-4_956-2del	ENSP00000465874.2:n.956-4_956-2del
ENST00000590061.2:c.956-4_956-2del	ENSP00000464772.2:n.956-4_956-2del
ENST00000593223.2:c.956-4_956-2del	ENSP00000466118.2:n.956-4_956-2del
ENST00000611848.2:c.956-4_956-2del	ENSP00000478613.2:n.956-4_956-2del
ENST00000684953.1:n.2328-4_2328-2del
ENST00000685090.1:n.1407-4_1407-2del
ENST00000685232.1:n.1064-4_1064-2del
ENST00000688307.1:n.207-4_207-2del
ENST00000688574.1:n.1064-4_1064-2del
ENST00000688903.1:n.1170-4_1170-2del
ENST00000691124.1:n.2434_2436del
ENST00000342988.8:c.956-4_956-2del MANE Select	ENSP00000341551.3:n.956-4_956-2del
ENST00000342988.7:c.956-4_956-2del	ENSP00000341551.3:n.956-4_956-2del
ENST00000398417.6:c.956-4_956-2del	ENSP00000381452.1:n.956-4_956-2del
ENST00000588745.5:c.668-4_668-2del	ENSP00000464901.1:n.668-4_668-2del
ENST00000591126.5:n.2957-4_2957-2del
ENST00000592186.5:c.955+5503_955+5505del	ENSP00000468611.1:n.955+5503_955+5505del
ENST00000611848.1:c.156-4_156-2del
NM_005359.5:c.956-4_956-2del , LRG_318t1:c.956-4_956-2del	NP_005350.1:n.956-4_956-2del
NM_005359.6:c.956-4_956-2del MANE Select	NP_005350.1:n.956-4_956-2del