Canonical Allele Identifier: CA323716

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 213808
• ClinVar RCV Id: RCV000199186
• dbSNP Id: rs863223771
• MyVariant Identifiers: chr15:g.67457673del (hg19) ; chr15:g.67165335del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165335del , CM000677.2:g.67165335del	GRCh38
NC_000015.9:g.67457673del , CM000677.1:g.67457673del	GRCh37
NC_000015.8:g.65244727del	NCBI36
NG_011990.1:g.104479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.168del	ENSP00000453684.2:p.Glu57LysfsTer24
ENST00000559460.6:c.168del	ENSP00000453082.2:p.Glu57LysfsTer24
ENST00000560424.2:c.483del	ENSP00000455540.2:p.Glu162LysfsTer24
ENST00000327367.9:c.483del MANE Select	ENSP00000332973.4:p.Glu162LysfsTer24
ENST00000679624.1:c.168del	ENSP00000505445.1:p.Glu57LysfsTer24
ENST00000681239.1:c.168del	ENSP00000505641.1:p.Glu57LysfsTer24
ENST00000327367.8:c.483del	ENSP00000332973.4:p.Glu162LysfsTer24
ENST00000439724.7:c.351del	ENSP00000401133.3:p.Glu118LysfsTer24
ENST00000540846.6:c.168del	ENSP00000437757.2:p.Glu57LysfsTer24
ENST00000558739.1:c.168del	ENSP00000453684.1:p.Glu57LysfsTer?
ENST00000558894.5:c.168del	ENSP00000458060.1:p.Glu57LysfsTer24
ENST00000559460.5:c.168del	ENSP00000453082.1:p.Glu57LysfsTer24
ENST00000559937.1:n.333del
ENST00000560175.5:c.168del	ENSP00000455095.1:p.Glu57LysfsTer24
NM_001145102.1:c.168del	NP_001138574.1:p.Glu57LysfsTer24
NM_001145103.1:c.351del	NP_001138575.1:p.Glu118LysfsTer24
NM_005902.3:c.483del	NP_005893.1:p.Glu162LysfsTer24
XM_011521559.1:c.400+247del	XP_011519861.1:n.400+247del
XM_011521560.1:c.336del	XP_011519862.1:p.Glu113LysfsTer24
XM_011521559.3:c.400+247del	XP_011519861.1:n.400+247del
NM_005902.4:c.483del MANE Select	NP_005893.1:p.Glu162LysfsTer24
NM_001145102.2:c.168del	NP_001138574.1:p.Glu57LysfsTer24
NM_001145103.2:c.351del	NP_001138575.1:p.Glu118LysfsTer24