Canonical Allele Identifier: CA2499223055
Gene: SMAD3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1172449
ClinVar RCV Id: RCV001526317
dbSNP Id: rs2140188640
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066138_67066140delinsACA , CM000677.2:g.67066138_67066140delinsACA GRCh38
NC_000015.9:g.67358476_67358478delinsACA , CM000677.1:g.67358476_67358478delinsACA GRCh37
NC_000015.8:g.65145530_65145532delinsACA NCBI36
NG_011990.1:g.5282_5284delinsACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2194_-110+2196delinsACA ENSP00000453082.2:n.-110+2194_-110+2196delinsACA
ENST00000560424.2:c.-17_-15delinsACA ENSP00000455540.2:n.-17_-15delinsACA
ENST00000327367.9:c.-17_-15delinsACA MANE Select ENSP00000332973.4:n.-17_-15delinsACA
ENST00000327367.8:c.-17_-15delinsACA ENSP00000332973.4:n.-17_-15delinsACA
ENST00000559460.5:c.-110+2194_-110+2196delinsACA ENSP00000453082.1:n.-110+2194_-110+2196delinsACA
NM_005902.3:c.-17_-15delinsACA NP_005893.1:n.-17_-15delinsACA
XM_011521559.1:c.-17_-15delinsACA XP_011519861.1:n.-17_-15delinsACA
XM_011521559.3:c.-17_-15delinsACA XP_011519861.1:n.-17_-15delinsACA
NM_005902.4:c.-17_-15delinsACA MANE Select NP_005893.1:n.-17_-15delinsACA
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