Canonical Allele Identifier: CA16620698

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 423519
• ClinVar RCV Id: RCV000478172
• dbSNP Id: rs1064796471
• MyVariant Identifiers: chr18:g.48573426_48573427del (hg19) ; chr18:g.51047056_51047057del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047056_51047057del , CM000680.2:g.51047056_51047057del	GRCh38
NC_000018.9:g.48573426_48573427del , CM000680.1:g.48573426_48573427del	GRCh37
NC_000018.8:g.46827424_46827425del	NCBI36
NG_013013.2:g.84017_84018del , LRG_318:g.84017_84018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.10_11del	ENSP00000465878.2:p.Met4ValfsTer9
ENST00000589076.6:c.10_11del	ENSP00000466934.2:p.Met4ValfsTer9
ENST00000589941.2:c.10_11del	ENSP00000465874.2:p.Met4ValfsTer9
ENST00000590061.2:c.10_11del	ENSP00000464772.2:p.Met4ValfsTer9
ENST00000593223.2:c.10_11del	ENSP00000466118.2:p.Met4ValfsTer9
ENST00000611848.2:c.10_11del	ENSP00000478613.2:p.Met4ValfsTer9
ENST00000342988.8:c.10_11del MANE Select	ENSP00000341551.3:p.Met4ValfsTer9
ENST00000342988.7:c.10_11del	ENSP00000341551.3:p.Met4ValfsTer9
ENST00000398417.6:c.10_11del	ENSP00000381452.1:p.Met4ValfsTer9
ENST00000588256.1:n.471_472del
ENST00000588745.5:c.10_11del	ENSP00000464901.1:p.Met4ValfsTer9
ENST00000588860.5:c.10_11del	ENSP00000465878.1:p.Met4ValfsTer9
ENST00000589076.5:c.10_11del	ENSP00000466934.1:p.Met4ValfsTer9
ENST00000589941.1:c.10_11del	ENSP00000465874.1:p.Met4ValfsTer9
ENST00000590061.1:c.10_11del	ENSP00000464772.1:p.Met4ValfsTer9
ENST00000590722.2:c.*33_*34del	ENSP00000465737.1:n.*33_*34del
ENST00000591914.5:c.10_11del	ENSP00000466941.1:p.Met4ValfsTer9
ENST00000592186.5:c.10_11del	ENSP00000468611.1:p.Met4ValfsTer9
ENST00000592911.5:n.28-1630_28-1629del
NM_005359.5:c.10_11del , LRG_318t1:c.10_11del	NP_005350.1:p.Met4ValfsTer9
NM_005359.6:c.10_11del MANE Select	NP_005350.1:p.Met4ValfsTer9