Canonical Allele Identifier: CA919580148
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs1566991595

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67165085_67165117del , CM000677.2:g.67165085_67165117del GRCh38
NC_000015.9:g.67457423_67457455del , CM000677.1:g.67457423_67457455del GRCh37
NC_000015.8:g.65244477_65244509del NCBI36
NG_011990.1:g.104229_104261del

Transcript Alleles

HGVS Amino-acid Change
ENST00000558739.2:c.82_85+29del
ENST00000559460.6:c.82_85+29del
ENST00000560424.2:c.397_400+29del
ENST00000327367.9:c.397_400+29del
ENST00000679624.1:c.82_85+29del
ENST00000681239.1:c.82_85+29del
ENST00000327367.8:c.397_400+29del
ENST00000439724.7:c.265_268+29del
ENST00000540846.6:c.82_85+29del
ENST00000558739.1:c.82_85+29del
ENST00000558894.5:c.82_85+29del
ENST00000559460.5:c.82_85+29del
ENST00000559937.1:n.247_250+29del
ENST00000560175.5:c.82_85+29del
NM_001145102.1:c.82_85+29del
NM_001145103.1:c.265_268+29del
NM_005902.3:c.397_400+29del
XM_011521559.1:c.397_400+29del
XM_011521560.1:c.250_253+29del
XM_011521559.3:c.397_400+29del
NM_005902.4:c.397_400+29del
NM_001145102.2:c.82_85+29del
NM_001145103.2:c.265_268+29del