Canonical Allele Identifier: CA259260
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs377767374
MyVariant Identifiers: chr18:g.48604742_48604743del (hg19) chr18:g.51078372_51078373del (hg38)
PubMed: PMID:10764709
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078372_51078373del , CM000680.2:g.51078372_51078373del GRCh38
NC_000018.9:g.48604742_48604743del , CM000680.1:g.48604742_48604743del GRCh37
NC_000018.8:g.46858740_46858741del NCBI36
NG_013013.2:g.115333_115334del , LRG_318:g.115333_115334del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.1564_1565del ENSP00000465878.2:p.Pro522LeufsTer4
ENST00000589076.6:c.1564_1565del ENSP00000466934.2:p.Pro522LeufsTer4
ENST00000589941.2:c.1564_1565del ENSP00000465874.2:p.Pro522LeufsTer4
ENST00000590061.2:c.1564_1565del ENSP00000464772.2:p.Pro522LeufsTer4
ENST00000593223.2:c.*1561_*1562del ENSP00000466118.2:n.*1561_*1562del
ENST00000611848.2:c.*216_*217del ENSP00000478613.2:n.*216_*217del
ENST00000684953.1:n.3579_3580del
ENST00000685090.1:n.3494_3495del
ENST00000685232.1:n.1785_1786del
ENST00000688574.1:n.1672_1673del
ENST00000691124.1:n.4525_4526del
ENST00000342988.8:c.1564_1565del MANE Select ENSP00000341551.3:p.Pro522LeufsTer4
ENST00000342988.7:c.1564_1565del ENSP00000341551.3:p.Pro522LeufsTer4
ENST00000398417.6:c.1564_1565del ENSP00000381452.1:p.Pro522LeufsTer4
ENST00000586253.1:n.286_287del
ENST00000588745.5:c.1276_1277del ENSP00000464901.1:p.Pro426LeufsTer4
ENST00000591126.5:n.3565_3566del
ENST00000592186.5:c.1211_1212del ENSP00000468611.1:n.1211_1212del
ENST00000611848.1:c.877_878del
NM_005359.5:c.1564_1565del , LRG_318t1:c.1564_1565del NP_005350.1:p.Pro522LeufsTer4
NM_005359.6:c.1564_1565del MANE Select NP_005350.1:p.Pro522LeufsTer4
Search 100 bp 5'
Search 100 bp 3'