Canonical Allele Identifier: CA2641839425

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078383-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078383_51078384insAA , CM000680.2:g.51078383_51078384insAA	GRCh38
NC_000018.9:g.48604753_48604754insAA , CM000680.1:g.48604753_48604754insAA	GRCh37
NC_000018.8:g.46858751_46858752insAA	NCBI36
NG_013013.2:g.115344_115345insAA , LRG_318:g.115344_115345insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1575_1576insAA	ENSP00000465878.2:p.Glu526LysfsTer12
ENST00000589076.6:c.1575_1576insAA	ENSP00000466934.2:p.Glu526LysfsTer12
ENST00000589941.2:c.1575_1576insAA	ENSP00000465874.2:p.Glu526LysfsTer12
ENST00000590061.2:c.1575_1576insAA	ENSP00000464772.2:p.Glu526LysfsTer12
ENST00000593223.2:c.*1572_*1573insAA	ENSP00000466118.2:n.*1572_*1573insAA
ENST00000611848.2:c.*227_*228insAA	ENSP00000478613.2:n.*227_*228insAA
ENST00000684953.1:n.3590_3591insAA
ENST00000685090.1:n.3505_3506insAA
ENST00000685232.1:n.1796_1797insAA
ENST00000688574.1:n.1683_1684insAA
ENST00000691124.1:n.4536_4537insAA
ENST00000342988.8:c.1575_1576insAA MANE Select	ENSP00000341551.3:p.Glu526LysfsTer12
ENST00000342988.7:c.1575_1576insAA	ENSP00000341551.3:p.Glu526LysfsTer12
ENST00000398417.6:c.1575_1576insAA	ENSP00000381452.1:p.Glu526LysfsTer12
ENST00000586253.1:n.297_298insAA
ENST00000588745.5:c.1287_1288insAA	ENSP00000464901.1:p.Glu430LysfsTer12
ENST00000591126.5:n.3576_3577insAA
ENST00000592186.5:c.1222_1223insAA	ENSP00000468611.1:n.1222_1223insAA
ENST00000611848.1:c.888_889insAA
NM_005359.5:c.1575_1576insAA , LRG_318t1:c.1575_1576insAA	NP_005350.1:p.Glu526LysfsTer12
NM_005359.6:c.1575_1576insAA MANE Select	NP_005350.1:p.Glu526LysfsTer12