Canonical Allele Identifier: CA2740096724

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2986500
• ClinVar RCV Id: RCV003844171

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165236_67165237del , CM000677.2:g.67165236_67165237del	GRCh38
NC_000015.9:g.67457574_67457575del , CM000677.1:g.67457574_67457575del	GRCh37
NC_000015.8:g.65244628_65244629del	NCBI36
NG_011990.1:g.104380_104381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.86-17_86-16del	ENSP00000453684.2:n.86-17_86-16del
ENST00000559460.6:c.86-17_86-16del	ENSP00000453082.2:n.86-17_86-16del
ENST00000560424.2:c.401-17_401-16del	ENSP00000455540.2:n.401-17_401-16del
ENST00000327367.9:c.401-17_401-16del MANE Select	ENSP00000332973.4:n.401-17_401-16del
ENST00000679624.1:c.86-17_86-16del	ENSP00000505445.1:n.86-17_86-16del
ENST00000681239.1:c.86-17_86-16del	ENSP00000505641.1:n.86-17_86-16del
ENST00000327367.8:c.401-17_401-16del	ENSP00000332973.4:n.401-17_401-16del
ENST00000439724.7:c.269-17_269-16del	ENSP00000401133.3:n.269-17_269-16del
ENST00000540846.6:c.86-17_86-16del	ENSP00000437757.2:n.86-17_86-16del
ENST00000558739.1:c.86-17_86-16del	ENSP00000453684.1:n.86-17_86-16del
ENST00000558894.5:c.86-17_86-16del	ENSP00000458060.1:n.86-17_86-16del
ENST00000559460.5:c.86-17_86-16del	ENSP00000453082.1:n.86-17_86-16del
ENST00000559937.1:n.251-17_251-16del
ENST00000560175.5:c.86-17_86-16del	ENSP00000455095.1:n.86-17_86-16del
NM_001145102.1:c.86-17_86-16del	NP_001138574.1:n.86-17_86-16del
NM_001145103.1:c.269-17_269-16del	NP_001138575.1:n.269-17_269-16del
NM_005902.3:c.401-17_401-16del	NP_005893.1:n.401-17_401-16del
XM_011521559.1:c.400+148_400+149del	XP_011519861.1:n.400+148_400+149del
XM_011521560.1:c.254-17_254-16del	XP_011519862.1:n.254-17_254-16del
XM_011521559.3:c.400+148_400+149del	XP_011519861.1:n.400+148_400+149del
NM_005902.4:c.401-17_401-16del MANE Select	NP_005893.1:n.401-17_401-16del
NM_001145102.2:c.86-17_86-16del	NP_001138574.1:n.86-17_86-16del
NM_001145103.2:c.269-17_269-16del	NP_001138575.1:n.269-17_269-16del