Canonical Allele Identifier: CA990256216

Gene: SMAD4

Linked Data

• gnomAD v3: 18-51078653-TC-T
• gnomAD v4: 18-51078653-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078654del , CM000680.2:g.51078654del	GRCh38
NC_000018.9:g.48605024del , CM000680.1:g.48605024del	GRCh37
NC_000018.8:g.46859022del	NCBI36
NG_013013.2:g.115615del , LRG_318:g.115615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*187del	ENSP00000465878.2:n.*187del
ENST00000589076.6:c.*187del	ENSP00000466934.2:n.*187del
ENST00000589941.2:c.*187del	ENSP00000465874.2:n.*187del
ENST00000590061.2:c.*187del	ENSP00000464772.2:n.*187del
ENST00000593223.2:c.*1843del	ENSP00000466118.2:n.*1843del
ENST00000611848.2:c.*498del	ENSP00000478613.2:n.*498del
ENST00000684953.1:n.3861del
ENST00000685090.1:n.3776del
ENST00000685232.1:n.2067del
ENST00000688574.1:n.1954del
ENST00000691124.1:n.4807del
ENST00000342988.8:c.*187del MANE Select	ENSP00000341551.3:n.*187del
ENST00000342988.7:c.*187del	ENSP00000341551.3:n.*187del
ENST00000398417.6:c.*187del	ENSP00000381452.1:n.*187del
ENST00000586253.1:n.568del
ENST00000591126.5:n.3847del
ENST00000611848.1:c.1159del
NM_005359.5:c.*187del , LRG_318t1:c.*187del	NP_005350.1:n.*187del
NM_005359.6:c.*187del MANE Select	NP_005350.1:n.*187del