Canonical Allele Identifier: CA2641838718

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144451619
• gnomAD v4: 18-51067015-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067017del , CM000680.2:g.51067017del	GRCh38
NC_000018.9:g.48593387del , CM000680.1:g.48593387del	GRCh37
NC_000018.8:g.46847385del	NCBI36
NG_013013.2:g.103978del , LRG_318:g.103978del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1140-2del	ENSP00000465878.2:n.1140-2del
ENST00000589076.6:c.1140-2del	ENSP00000466934.2:n.1140-2del
ENST00000589941.2:c.1140-2del	ENSP00000465874.2:n.1140-2del
ENST00000590061.2:c.1140-2del	ENSP00000464772.2:n.1140-2del
ENST00000593223.2:c.1140-2del	ENSP00000466118.2:n.1140-2del
ENST00000611848.2:c.1140-2del	ENSP00000478613.2:n.1140-2del
ENST00000684953.1:n.2512-2del
ENST00000685090.1:n.1591-2del
ENST00000685232.1:n.1248-2del
ENST00000688574.1:n.1248-2del
ENST00000691124.1:n.2622-2del
ENST00000342988.8:c.1140-2del MANE Select	ENSP00000341551.3:n.1140-2del
ENST00000342988.7:c.1140-2del	ENSP00000341551.3:n.1140-2del
ENST00000398417.6:c.1140-2del	ENSP00000381452.1:n.1140-2del
ENST00000588745.5:c.852-2del	ENSP00000464901.1:n.852-2del
ENST00000590499.1:n.196del
ENST00000591126.5:n.3141-2del
ENST00000592186.5:c.955+7101del	ENSP00000468611.1:n.955+7101del
ENST00000611848.1:c.340-2del
NM_005359.5:c.1140-2del , LRG_318t1:c.1140-2del	NP_005350.1:n.1140-2del
NM_005359.6:c.1140-2del MANE Select	NP_005350.1:n.1140-2del