Canonical Allele Identifier: CA891843530

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 582880
• ClinVar RCV Id: RCV000707067
• dbSNP Id: rs1567003613
• MyVariant Identifiers: chr15:g.67479846dup (hg19) ; chr15:g.67187508dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67187508dup , CM000677.2:g.67187508dup	GRCh38
NC_000015.9:g.67479846dup , CM000677.1:g.67479846dup	GRCh37
NC_000015.8:g.65266900dup	NCBI36
NG_011990.1:g.126652dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558428.6:c.568dup	ENSP00000454165.2:p.Arg190LysfsTer13
ENST00000558739.2:c.838dup	ENSP00000453684.2:p.Arg280LysfsTer13
ENST00000558827.2:c.568dup	ENSP00000452767.2:p.Arg190LysfsTer13
ENST00000559460.6:c.838dup	ENSP00000453082.2:p.Arg280LysfsTer13
ENST00000560424.2:c.1264dup	ENSP00000455540.2:p.Arg422LysfsTer13
ENST00000327367.9:c.1153dup MANE Select	ENSP00000332973.4:p.Arg385LysfsTer13
ENST00000679624.1:c.838dup	ENSP00000505445.1:p.Arg280LysfsTer13
ENST00000680689.1:n.856dup
ENST00000681239.1:c.838dup	ENSP00000505641.1:p.Arg280LysfsTer13
ENST00000327367.8:c.1153dup	ENSP00000332973.4:p.Arg385LysfsTer13
ENST00000439724.7:c.1021dup	ENSP00000401133.3:p.Arg341LysfsTer13
ENST00000537194.6:c.568dup	ENSP00000445348.2:p.Arg190LysfsTer13
ENST00000540846.6:c.838dup	ENSP00000437757.2:p.Arg280LysfsTer13
ENST00000558763.1:n.847dup
ENST00000560402.1:n.283-5365dup
ENST00000560424.1:c.345dup
NM_001145102.1:c.838dup	NP_001138574.1:p.Arg280LysfsTer13
NM_001145103.1:c.1021dup	NP_001138575.1:p.Arg341LysfsTer13
NM_001145104.1:c.568dup	NP_001138576.1:p.Arg190LysfsTer13
NM_005902.3:c.1153dup	NP_005893.1:p.Arg385LysfsTer13
XM_011521559.1:c.1021dup	XP_011519861.1:p.Arg341LysfsTer13
XM_011521560.1:c.1006dup	XP_011519862.1:p.Arg336LysfsTer13
XM_011521559.3:c.1021dup	XP_011519861.1:p.Arg341LysfsTer13
NM_005902.4:c.1153dup MANE Select	NP_005893.1:p.Arg385LysfsTer13
NM_001145102.2:c.838dup	NP_001138574.1:p.Arg280LysfsTer13
NM_001145103.2:c.1021dup	NP_001138575.1:p.Arg341LysfsTer13
NM_001145104.2:c.568dup	NP_001138576.1:p.Arg190LysfsTer13