Canonical Allele Identifier: CA2084883461
Gene: SMAD9 HGNC NCBI

Linked Data

dbSNP Id: rs2058378064

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.36879309del , CM000675.2:g.36879309del GRCh38
NC_000013.10:g.37453446del , CM000675.1:g.37453446del GRCh37
NC_000013.9:g.36351446del NCBI36
NG_016963.1:g.45966del , LRG_703:g.45966del

Transcript Alleles

HGVS Amino-acid Change
ENST00000350148.10:c.383del ENSP00000239885.6:p.Pro128LeufsTer?
ENST00000379826.5:c.383del MANE Select ENSP00000369154.4:p.Pro128LeufsTer?
ENST00000399275.7:c.383del ENSP00000382216.3:p.Pro128LeufsTer15
ENST00000350148.9:c.383del ENSP00000239885.6:p.Pro128LeufsTer?
ENST00000379826.4:c.383del ENSP00000369154.4:p.Pro128LeufsTer?
ENST00000399275.6:c.383del ENSP00000382216.2:p.Pro128LeufsTer?
NM_001127217.2:c.383del , LRG_703t1:c.383del NP_001120689.1:p.Pro128LeufsTer?
NM_005905.5:c.383del NP_005896.1:p.Pro128LeufsTer?
XM_005266401.2:c.383del XP_005266458.1:p.Pro128LeufsTer?
XM_005266403.2:c.383del XP_005266460.1:p.Pro128LeufsTer?
XM_005266404.2:c.383del XP_005266461.1:p.Pro128LeufsTer?
XM_006719827.2:c.383del XP_006719890.1:p.Pro128LeufsTer?
XM_011535096.1:c.383del XP_011533398.1:p.Pro128LeufsTer?
XM_005266401.3:c.383del XP_005266458.1:p.Pro128LeufsTer?
XM_005266403.3:c.383del XP_005266460.1:p.Pro128LeufsTer?
XM_005266404.3:c.383del XP_005266461.1:p.Pro128LeufsTer?
XM_006719827.3:c.383del XP_006719890.1:p.Pro128LeufsTer?
NM_001127217.3:c.383del MANE Select NP_001120689.1:p.Pro128LeufsTer?
NM_005905.6:c.383del NP_005896.1:p.Pro128LeufsTer?
NM_001378621.1:c.383del NP_001365550.1:p.Pro128LeufsTer?