Canonical Allele Identifier: CA2184423096
Gene: SMAD3 HGNC NCBI

Linked Data

dbSNP Id: rs1963382718

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67192161_67192162insG , CM000677.2:g.67192161_67192162insG GRCh38
NC_000015.9:g.67484499_67484500insG , CM000677.1:g.67484499_67484500insG GRCh37
NC_000015.8:g.65271553_65271554insG NCBI36
NG_011990.1:g.131305_131306insG

Transcript Alleles

HGVS Amino-acid change
ENST00000558739.2:c.*1625_*1626insG ENSP00000453684.2:n.*1625_*1626insG
ENST00000559460.6:c.*1625_*1626insG ENSP00000453082.2:n.*1625_*1626insG
ENST00000327367.9:c.*1625_*1626insG MANE Select ENSP00000332973.4:n.*1625_*1626insG
ENST00000679624.1:c.*1625_*1626insG ENSP00000505445.1:n.*1625_*1626insG
ENST00000681239.1:c.*1625_*1626insG ENSP00000505641.1:n.*1625_*1626insG
ENST00000327367.8:c.*1625_*1626insG ENSP00000332973.4:n.*1625_*1626insG
ENST00000560402.1:n.283-712_283-711insG
NM_001145102.1:c.*1625_*1626insG NP_001138574.1:n.*1625_*1626insG
NM_001145103.1:c.*1625_*1626insG NP_001138575.1:n.*1625_*1626insG
NM_001145104.1:c.*1625_*1626insG NP_001138576.1:n.*1625_*1626insG
NM_005902.3:c.*1625_*1626insG NP_005893.1:n.*1625_*1626insG
XM_011521559.1:c.*1625_*1626insG XP_011519861.1:n.*1625_*1626insG
XM_011521560.1:c.*1625_*1626insG XP_011519862.1:n.*1625_*1626insG
XM_011521559.3:c.*1625_*1626insG XP_011519861.1:n.*1625_*1626insG
NM_005902.4:c.*1625_*1626insG MANE Select NP_005893.1:n.*1625_*1626insG
NM_001145102.2:c.*1625_*1626insG NP_001138574.1:n.*1625_*1626insG
NM_001145103.2:c.*1625_*1626insG NP_001138575.1:n.*1625_*1626insG
NM_001145104.2:c.*1625_*1626insG NP_001138576.1:n.*1625_*1626insG