Canonical Allele Identifier: CA2641839527

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078635-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078637del , CM000680.2:g.51078637del	GRCh38
NC_000018.9:g.48605007del , CM000680.1:g.48605007del	GRCh37
NC_000018.8:g.46859005del	NCBI36
NG_013013.2:g.115598del , LRG_318:g.115598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*170del	ENSP00000465878.2:n.*170del
ENST00000589076.6:c.*170del	ENSP00000466934.2:n.*170del
ENST00000589941.2:c.*170del	ENSP00000465874.2:n.*170del
ENST00000590061.2:c.*170del	ENSP00000464772.2:n.*170del
ENST00000593223.2:c.*1826del	ENSP00000466118.2:n.*1826del
ENST00000611848.2:c.*481del	ENSP00000478613.2:n.*481del
ENST00000684953.1:n.3844del
ENST00000685090.1:n.3759del
ENST00000685232.1:n.2050del
ENST00000688574.1:n.1937del
ENST00000691124.1:n.4790del
ENST00000342988.8:c.*170del MANE Select	ENSP00000341551.3:n.*170del
ENST00000342988.7:c.*170del	ENSP00000341551.3:n.*170del
ENST00000398417.6:c.*170del	ENSP00000381452.1:n.*170del
ENST00000586253.1:n.551del
ENST00000591126.5:n.3830del
ENST00000611848.1:c.1142del
NM_005359.5:c.*170del , LRG_318t1:c.*170del	NP_005350.1:n.*170del
NM_005359.6:c.*170del MANE Select	NP_005350.1:n.*170del