Canonical Allele Identifier: CA2184423190

Gene: SMAD3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67192355_67192358delinsCGAA , CM000677.2:g.67192355_67192358delinsCGAA	GRCh38
NC_000015.9:g.67484693_67484696delinsCGAA , CM000677.1:g.67484693_67484696delinsCGAA	GRCh37
NC_000015.8:g.65271747_65271750delinsCGAA	NCBI36
NG_011990.1:g.131499_131502delinsCGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.*1819_*1822delinsCGAA	ENSP00000453684.2:n.*1819_*1822delinsCGAA
ENST00000559460.6:c.*1819_*1822delinsCGAA	ENSP00000453082.2:n.*1819_*1822delinsCGAA
ENST00000327367.9:c.*1819_*1822delinsCGAA MANE Select	ENSP00000332973.4:n.*1819_*1822delinsCGAA
ENST00000679624.1:c.*1819_*1822delinsCGAA	ENSP00000505445.1:n.*1819_*1822delinsCGAA
ENST00000681239.1:c.*1819_*1822delinsCGAA	ENSP00000505641.1:n.*1819_*1822delinsCGAA
ENST00000327367.8:c.*1819_*1822delinsCGAA	ENSP00000332973.4:n.*1819_*1822delinsCGAA
ENST00000560402.1:n.283-518_283-515delinsCGAA
NM_001145102.1:c.*1819_*1822delinsCGAA	NP_001138574.1:n.*1819_*1822delinsCGAA
NM_001145103.1:c.*1819_*1822delinsCGAA	NP_001138575.1:n.*1819_*1822delinsCGAA
NM_001145104.1:c.*1819_*1822delinsCGAA	NP_001138576.1:n.*1819_*1822delinsCGAA
NM_005902.3:c.*1819_*1822delinsCGAA	NP_005893.1:n.*1819_*1822delinsCGAA
XM_011521559.1:c.*1819_*1822delinsCGAA	XP_011519861.1:n.*1819_*1822delinsCGAA
XM_011521560.1:c.*1819_*1822delinsCGAA	XP_011519862.1:n.*1819_*1822delinsCGAA
XM_011521559.3:c.*1819_*1822delinsCGAA	XP_011519861.1:n.*1819_*1822delinsCGAA
NM_005902.4:c.*1819_*1822delinsCGAA MANE Select	NP_005893.1:n.*1819_*1822delinsCGAA
NM_001145102.2:c.*1819_*1822delinsCGAA	NP_001138574.1:n.*1819_*1822delinsCGAA
NM_001145103.2:c.*1819_*1822delinsCGAA	NP_001138575.1:n.*1819_*1822delinsCGAA
NM_001145104.2:c.*1819_*1822delinsCGAA	NP_001138576.1:n.*1819_*1822delinsCGAA