Canonical Allele Identifier: CA2629117544

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67165241-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67165246dup , CM000677.2:g.67165246dup	GRCh38
NC_000015.9:g.67457584dup , CM000677.1:g.67457584dup	GRCh37
NC_000015.8:g.65244638dup	NCBI36
NG_011990.1:g.104390dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.86-7dup	ENSP00000453684.2:n.86-7dup
ENST00000559460.6:c.86-7dup	ENSP00000453082.2:n.86-7dup
ENST00000560424.2:c.401-7dup	ENSP00000455540.2:n.401-7dup
ENST00000327367.9:c.401-7dup MANE Select	ENSP00000332973.4:n.401-7dup
ENST00000679624.1:c.86-7dup	ENSP00000505445.1:n.86-7dup
ENST00000681239.1:c.86-7dup	ENSP00000505641.1:n.86-7dup
ENST00000327367.8:c.401-7dup	ENSP00000332973.4:n.401-7dup
ENST00000439724.7:c.269-7dup	ENSP00000401133.3:n.269-7dup
ENST00000540846.6:c.86-7dup	ENSP00000437757.2:n.86-7dup
ENST00000558739.1:c.86-7dup	ENSP00000453684.1:n.86-7dup
ENST00000558894.5:c.86-7dup	ENSP00000458060.1:n.86-7dup
ENST00000559460.5:c.86-7dup	ENSP00000453082.1:n.86-7dup
ENST00000559937.1:n.251-7dup
ENST00000560175.5:c.86-7dup	ENSP00000455095.1:n.86-7dup
NM_001145102.1:c.86-7dup	NP_001138574.1:n.86-7dup
NM_001145103.1:c.269-7dup	NP_001138575.1:n.269-7dup
NM_005902.3:c.401-7dup	NP_005893.1:n.401-7dup
XM_011521559.1:c.400+158dup	XP_011519861.1:n.400+158dup
XM_011521560.1:c.254-7dup	XP_011519862.1:n.254-7dup
XM_011521559.3:c.400+158dup	XP_011519861.1:n.400+158dup
NM_005902.4:c.401-7dup MANE Select	NP_005893.1:n.401-7dup
NM_001145102.2:c.86-7dup	NP_001138574.1:n.86-7dup
NM_001145103.2:c.269-7dup	NP_001138575.1:n.269-7dup