Canonical Allele Identifier: CA780210439

Gene: SMAD4

Linked Data

• dbSNP Id: rs56017493
• gnomAD v3: 18-51084012-G-GCACACACACA
• gnomAD v4: 18-51084012-G-GCACACACACA
• MyVariant Identifiers: chr18:g.48610382_48610383insCACACACACA (hg19) ; chr18:g.51084012_51084013insCACACACACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51084035_51084044dup , CM000680.2:g.51084035_51084044dup	GRCh38
NC_000018.9:g.48610405_48610414dup , CM000680.1:g.48610405_48610414dup	GRCh37
NC_000018.8:g.46864403_46864412dup	NCBI36
NG_013013.2:g.120996_121005dup , LRG_318:g.120996_121005dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.*5568_*5577dup	ENSP00000465878.2:n.*5568_*5577dup
ENST00000589076.6:c.*5568_*5577dup	ENSP00000466934.2:n.*5568_*5577dup
ENST00000589941.2:c.*5568_*5577dup	ENSP00000465874.2:n.*5568_*5577dup
ENST00000590061.2:c.*5568_*5577dup	ENSP00000464772.2:n.*5568_*5577dup
ENST00000688574.1:n.7335_7344dup
ENST00000342988.8:c.*5568_*5577dup MANE Select	ENSP00000341551.3:n.*5568_*5577dup
ENST00000342988.7:c.*5568_*5577dup	ENSP00000341551.3:n.*5568_*5577dup
ENST00000398417.6:c.*5568_*5577dup	ENSP00000381452.1:n.*5568_*5577dup
NM_005359.5:c.*5568_*5577dup , LRG_318t1:c.*5568_*5577dup	NP_005350.1:n.*5568_*5577dup
NM_005359.6:c.*5568_*5577dup MANE Select	NP_005350.1:n.*5568_*5577dup