Canonical Allele Identifier: CA990249370

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910697605
• gnomAD v3: 18-51084371-TC-T
• gnomAD v4: 18-51084371-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51084372del , CM000680.2:g.51084372del	GRCh38
NC_000018.9:g.48610742del , CM000680.1:g.48610742del	GRCh37
NC_000018.8:g.46864740del	NCBI36
NG_013013.2:g.121333del , LRG_318:g.121333del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.*5905del	ENSP00000465878.2:n.*5905del
ENST00000589076.6:c.*5905del	ENSP00000466934.2:n.*5905del
ENST00000589941.2:c.*5905del	ENSP00000465874.2:n.*5905del
ENST00000590061.2:c.*5905del	ENSP00000464772.2:n.*5905del
ENST00000688574.1:n.7672del
ENST00000342988.8:c.*5905del MANE Select	ENSP00000341551.3:n.*5905del
ENST00000342988.7:c.*5905del	ENSP00000341551.3:n.*5905del
ENST00000398417.6:c.*5905del	ENSP00000381452.1:n.*5905del
NM_005359.5:c.*5905del , LRG_318t1:c.*5905del	NP_005350.1:n.*5905del
NM_005359.6:c.*5905del MANE Select	NP_005350.1:n.*5905del