Canonical Allele Identifier: CA16614888
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 405569
ClinVar RCV Id: RCV000464246 RCV000786405
dbSNP Id: rs1060500773
MyVariant Identifiers: chr15:g.67457617_67457621del (hg19) chr15:g.67165279_67165283del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67165279_67165283del , CM000677.2:g.67165279_67165283del GRCh38
NC_000015.9:g.67457617_67457621del , CM000677.1:g.67457617_67457621del GRCh37
NC_000015.8:g.65244671_65244675del NCBI36
NG_011990.1:g.104423_104427del

Transcript Alleles

HGVS Amino-acid change
ENST00000558739.2:c.112_116del ENSP00000453684.2:p.His38ArgfsTer21
ENST00000559460.6:c.112_116del ENSP00000453082.2:p.His38ArgfsTer21
ENST00000560424.2:c.427_431del ENSP00000455540.2:p.His143ArgfsTer21
ENST00000327367.9:c.427_431del MANE Select ENSP00000332973.4:p.His143ArgfsTer21
ENST00000679624.1:c.112_116del ENSP00000505445.1:p.His38ArgfsTer21
ENST00000681239.1:c.112_116del ENSP00000505641.1:p.His38ArgfsTer21
ENST00000327367.8:c.427_431del ENSP00000332973.4:p.His143ArgfsTer21
ENST00000439724.7:c.295_299del ENSP00000401133.3:p.His99ArgfsTer21
ENST00000540846.6:c.112_116del ENSP00000437757.2:p.His38ArgfsTer21
ENST00000558739.1:c.112_116del ENSP00000453684.1:p.His38ArgfsTer21
ENST00000558894.5:c.112_116del ENSP00000458060.1:p.His38ArgfsTer21
ENST00000559460.5:c.112_116del ENSP00000453082.1:p.His38ArgfsTer21
ENST00000559937.1:n.277_281del
ENST00000560175.5:c.112_116del ENSP00000455095.1:p.His38ArgfsTer21
NM_001145102.1:c.112_116del NP_001138574.1:p.His38ArgfsTer21
NM_001145103.1:c.295_299del NP_001138575.1:p.His99ArgfsTer21
NM_005902.3:c.427_431del NP_005893.1:p.His143ArgfsTer21
XM_011521559.1:c.400+191_400+195del XP_011519861.1:n.400+191_400+195del
XM_011521560.1:c.280_284del XP_011519862.1:p.His94ArgfsTer21
XM_011521559.3:c.400+191_400+195del XP_011519861.1:n.400+191_400+195del
NM_005902.4:c.427_431del MANE Select NP_005893.1:p.His143ArgfsTer21
NM_001145102.2:c.112_116del NP_001138574.1:p.His38ArgfsTer21
NM_001145103.2:c.295_299del NP_001138575.1:p.His99ArgfsTer21
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