Canonical Allele Identifier: CA7626909

Gene: SMAD3

Linked Data

• dbSNP Id: rs767444339
• ExAC: 15:67457558 CTG / C
• gnomAD v2: 15-67457558-CTG-C
• gnomAD v4: 15-67165220-CTG-C
• MyVariant Identifiers: chr15:g.67457559_67457560del (hg19) ; chr15:g.67165221_67165222del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165221_67165222del , CM000677.2:g.67165221_67165222del	GRCh38
NC_000015.9:g.67457559_67457560del , CM000677.1:g.67457559_67457560del	GRCh37
NC_000015.8:g.65244613_65244614del	NCBI36
NG_011990.1:g.104365_104366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.86-32_86-31del	ENSP00000453684.2:n.86-32_86-31del
ENST00000559460.6:c.86-32_86-31del	ENSP00000453082.2:n.86-32_86-31del
ENST00000560424.2:c.401-32_401-31del	ENSP00000455540.2:n.401-32_401-31del
ENST00000327367.9:c.401-32_401-31del MANE Select	ENSP00000332973.4:n.401-32_401-31del
ENST00000679624.1:c.86-32_86-31del	ENSP00000505445.1:n.86-32_86-31del
ENST00000681239.1:c.86-32_86-31del	ENSP00000505641.1:n.86-32_86-31del
ENST00000327367.8:c.401-32_401-31del	ENSP00000332973.4:n.401-32_401-31del
ENST00000439724.7:c.269-32_269-31del	ENSP00000401133.3:n.269-32_269-31del
ENST00000540846.6:c.86-32_86-31del	ENSP00000437757.2:n.86-32_86-31del
ENST00000558739.1:c.86-32_86-31del	ENSP00000453684.1:n.86-32_86-31del
ENST00000558894.5:c.86-32_86-31del	ENSP00000458060.1:n.86-32_86-31del
ENST00000559460.5:c.86-32_86-31del	ENSP00000453082.1:n.86-32_86-31del
ENST00000559937.1:n.251-32_251-31del
ENST00000560175.5:c.86-32_86-31del	ENSP00000455095.1:n.86-32_86-31del
NM_001145102.1:c.86-32_86-31del	NP_001138574.1:n.86-32_86-31del
NM_001145103.1:c.269-32_269-31del	NP_001138575.1:n.269-32_269-31del
NM_005902.3:c.401-32_401-31del	NP_005893.1:n.401-32_401-31del
XM_011521559.1:c.400+133_400+134del	XP_011519861.1:n.400+133_400+134del
XM_011521560.1:c.254-32_254-31del	XP_011519862.1:n.254-32_254-31del
XM_011521559.3:c.400+133_400+134del	XP_011519861.1:n.400+133_400+134del
NM_005902.4:c.401-32_401-31del MANE Select	NP_005893.1:n.401-32_401-31del
NM_001145102.2:c.86-32_86-31del	NP_001138574.1:n.86-32_86-31del
NM_001145103.2:c.269-32_269-31del	NP_001138575.1:n.269-32_269-31del