Canonical Allele Identifier: CA16619990
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 420915
ClinVar RCV Id: RCV000483374 RCV001057003
dbSNP Id: rs1064794789
MyVariant Identifiers: chr15:g.67358546del (hg19) chr15:g.67066208del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066208del , CM000677.2:g.67066208del GRCh38
NC_000015.9:g.67358546del , CM000677.1:g.67358546del GRCh37
NC_000015.8:g.65145600del NCBI36
NG_011990.1:g.5352del

Transcript Alleles

HGVS Amino-acid change
ENST00000559460.6:c.-110+2264del ENSP00000453082.2:n.-110+2264del
ENST00000560424.2:c.54del ENSP00000455540.2:p.Trp18Ter
ENST00000327367.9:c.54del MANE Select ENSP00000332973.4:p.Trp18Ter
ENST00000327367.8:c.54del ENSP00000332973.4:p.Trp18Ter
ENST00000559460.5:c.-110+2264del ENSP00000453082.1:n.-110+2264del
NM_005902.3:c.54del NP_005893.1:p.Trp18Ter
XM_011521559.1:c.54del XP_011519861.1:p.Trp18Ter
XM_011521559.3:c.54del XP_011519861.1:p.Trp18Ter
NM_005902.4:c.54del MANE Select NP_005893.1:p.Trp18Ter
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