Canonical Allele Identifier: CA2641839464

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078567-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078568del , CM000680.2:g.51078568del	GRCh38
NC_000018.9:g.48604938del , CM000680.1:g.48604938del	GRCh37
NC_000018.8:g.46858936del	NCBI36
NG_013013.2:g.115529del , LRG_318:g.115529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*101del	ENSP00000465878.2:n.*101del
ENST00000589076.6:c.*101del	ENSP00000466934.2:n.*101del
ENST00000589941.2:c.*101del	ENSP00000465874.2:n.*101del
ENST00000590061.2:c.*101del	ENSP00000464772.2:n.*101del
ENST00000593223.2:c.*1757del	ENSP00000466118.2:n.*1757del
ENST00000611848.2:c.*412del	ENSP00000478613.2:n.*412del
ENST00000684953.1:n.3775del
ENST00000685090.1:n.3690del
ENST00000685232.1:n.1981del
ENST00000688574.1:n.1868del
ENST00000691124.1:n.4721del
ENST00000342988.8:c.*101del MANE Select	ENSP00000341551.3:n.*101del
ENST00000342988.7:c.*101del	ENSP00000341551.3:n.*101del
ENST00000398417.6:c.*101del	ENSP00000381452.1:n.*101del
ENST00000586253.1:n.482del
ENST00000591126.5:n.3761del
ENST00000611848.1:c.1073del
NM_005359.5:c.*101del , LRG_318t1:c.*101del	NP_005350.1:n.*101del
NM_005359.6:c.*101del MANE Select	NP_005350.1:n.*101del