Canonical Allele Identifier: CA2302989629

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910676428

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51083997_51084026del , CM000680.2:g.51083997_51084026del	GRCh38
NC_000018.9:g.48610367_48610396del , CM000680.1:g.48610367_48610396del	GRCh37
NC_000018.8:g.46864365_46864394del	NCBI36
NG_013013.2:g.120958_120987del , LRG_318:g.120958_120987del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.*5530_*5559del	ENSP00000465878.2:n.*5530_*5559del
ENST00000589076.6:c.*5530_*5559del	ENSP00000466934.2:n.*5530_*5559del
ENST00000589941.2:c.*5530_*5559del	ENSP00000465874.2:n.*5530_*5559del
ENST00000590061.2:c.*5530_*5559del	ENSP00000464772.2:n.*5530_*5559del
ENST00000688574.1:n.7297_7326del
ENST00000342988.8:c.*5530_*5559del MANE Select	ENSP00000341551.3:n.*5530_*5559del
ENST00000342988.7:c.*5530_*5559del	ENSP00000341551.3:n.*5530_*5559del
ENST00000398417.6:c.*5530_*5559del	ENSP00000381452.1:n.*5530_*5559del
NM_005359.5:c.*5530_*5559del , LRG_318t1:c.*5530_*5559del	NP_005350.1:n.*5530_*5559del
NM_005359.6:c.*5530_*5559del MANE Select	NP_005350.1:n.*5530_*5559del