Canonical Allele Identifier: CA259189
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs377767336

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51058383_51058384del , CM000680.2:g.51058383_51058384del GRCh38
NC_000018.9:g.48584753_48584754del , CM000680.1:g.48584753_48584754del GRCh37
NC_000018.8:g.46838751_46838752del NCBI36
NG_013013.2:g.95344_95345del , LRG_318:g.95344_95345del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.831_832del ENSP00000465878.2:p.Pro278Ter
ENST00000589076.6:c.831_832del ENSP00000466934.2:p.Pro278Ter
ENST00000589941.2:c.831_832del ENSP00000465874.2:p.Pro278Ter
ENST00000590061.2:c.831_832del ENSP00000464772.2:p.Pro278Ter
ENST00000593223.2:c.831_832del ENSP00000466118.2:p.Pro278Ter
ENST00000611848.2:c.831_832del ENSP00000478613.2:p.Pro278Ter
ENST00000684953.1:n.2203_2204del
ENST00000685232.1:n.939_940del
ENST00000688307.1:n.156-1483_156-1482del
ENST00000688574.1:n.939_940del
ENST00000688903.1:n.1045_1046del
ENST00000690892.1:n.939_940del
ENST00000342988.8:c.831_832del MANE Select ENSP00000341551.3:p.Pro278Ter
ENST00000342988.7:c.831_832del ENSP00000341551.3:p.Pro278Ter
ENST00000398417.6:c.831_832del ENSP00000381452.1:p.Pro278Ter
ENST00000588745.5:c.667+3390_667+3391del ENSP00000464901.1:n.667+3390_667+3391del
ENST00000591126.5:n.2832_2833del
ENST00000592186.5:c.831_832del ENSP00000468611.1:p.Pro278Ter
ENST00000611848.1:c.31_32del
NM_005359.5:c.831_832del , LRG_318t1:c.831_832del NP_005350.1:p.Pro278Ter
NM_005359.6:c.831_832del MANE Select NP_005350.1:p.Pro278Ter