Canonical Allele Identifier: CA715073523
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs1203460193
gnomAD v3: 15-67065824-GA-G
gnomAD v4: 15-67065824-GA-G
MyVariant Identifiers: chr15:g.67358163del (hg19) chr15:g.67065825del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67065827del , CM000677.2:g.67065827del GRCh38
NC_000015.9:g.67358165del , CM000677.1:g.67358165del GRCh37
NC_000015.8:g.65145219del NCBI36
NG_011990.1:g.4971del

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+1883del ENSP00000453082.2:n.-110+1883del
ENST00000560424.2:c.-328del ENSP00000455540.2:n.-328del
ENST00000327367.9:c.-328del MANE Select ENSP00000332973.4:n.-328del
ENST00000559460.5:c.-110+1883del ENSP00000453082.1:n.-110+1883del
XM_011521559.1:c.-328del XP_011519861.1:n.-328del
NM_005902.4:c.-328del MANE Select NP_005893.1:n.-328del
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