Canonical Allele Identifier: CA658798394

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 520184
• ClinVar RCV Id: RCV002315225
• dbSNP Id: rs1555412124
• MyVariant Identifiers: chr15:g.67457626_67457637del (hg19) ; chr15:g.67165288_67165299del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165288_67165299del , CM000677.2:g.67165288_67165299del	GRCh38
NC_000015.9:g.67457626_67457637del , CM000677.1:g.67457626_67457637del	GRCh37
NC_000015.8:g.65244680_65244691del	NCBI36
NG_011990.1:g.104432_104443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.121_132del	ENSP00000453684.2:p.Ile41_Glu44del
ENST00000559460.6:c.121_132del	ENSP00000453082.2:p.Ile41_Glu44del
ENST00000560424.2:c.436_447del	ENSP00000455540.2:p.Ile146_Glu149del
ENST00000327367.9:c.436_447del MANE Select	ENSP00000332973.4:p.Ile146_Glu149del
ENST00000679624.1:c.121_132del	ENSP00000505445.1:p.Ile41_Glu44del
ENST00000681239.1:c.121_132del	ENSP00000505641.1:p.Ile41_Glu44del
ENST00000327367.8:c.436_447del	ENSP00000332973.4:p.Ile146_Glu149del
ENST00000439724.7:c.304_315del	ENSP00000401133.3:p.Ile102_Glu105del
ENST00000540846.6:c.121_132del	ENSP00000437757.2:p.Ile41_Glu44del
ENST00000558739.1:c.121_132del	ENSP00000453684.1:p.Ile41_Glu44del
ENST00000558894.5:c.121_132del	ENSP00000458060.1:p.Ile41_Glu44del
ENST00000559460.5:c.121_132del	ENSP00000453082.1:p.Ile41_Glu44del
ENST00000559937.1:n.286_297del
ENST00000560175.5:c.121_132del	ENSP00000455095.1:p.Ile41_Glu44del
NM_001145102.1:c.121_132del	NP_001138574.1:p.Ile41_Glu44del
NM_001145103.1:c.304_315del	NP_001138575.1:p.Ile102_Glu105del
NM_005902.3:c.436_447del	NP_005893.1:p.Ile146_Glu149del
XM_011521559.1:c.400+200_400+211del	XP_011519861.1:n.400+200_400+211del
XM_011521560.1:c.289_300del	XP_011519862.1:p.Ile97_Glu100del
XM_011521559.3:c.400+200_400+211del	XP_011519861.1:n.400+200_400+211del
NM_005902.4:c.436_447del MANE Select	NP_005893.1:p.Ile146_Glu149del
NM_001145102.2:c.121_132del	NP_001138574.1:p.Ile41_Glu44del
NM_001145103.2:c.304_315del	NP_001138575.1:p.Ile102_Glu105del