Canonical Allele Identifier: CA990255678

Gene: SMAD4

Linked Data

• gnomAD v3: 18-51076778-TAAGTATG-T
• gnomAD v4: 18-51076778-TAAGTATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51076779_51076785del , CM000680.2:g.51076779_51076785del	GRCh38
NC_000018.9:g.48603149_48603155del , CM000680.1:g.48603149_48603155del	GRCh37
NC_000018.8:g.46857147_46857153del	NCBI36
NG_013013.2:g.113740_113746del , LRG_318:g.113740_113746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1447+3_1447+9del	ENSP00000465878.2:n.1447+3_1447+9del
ENST00000589076.6:c.1447+3_1447+9del	ENSP00000466934.2:n.1447+3_1447+9del
ENST00000589941.2:c.1447+3_1447+9del	ENSP00000465874.2:n.1447+3_1447+9del
ENST00000590061.2:c.1447+3_1447+9del	ENSP00000464772.2:n.1447+3_1447+9del
ENST00000593223.2:c.1450_1456del	ENSP00000466118.2:p.Lys484LeufsTer6
ENST00000611848.2:c.1447+3_1447+9del	ENSP00000478613.2:n.1447+3_1447+9del
ENST00000684953.1:n.2822_2828del
ENST00000685090.1:n.1901_1907del
ENST00000685232.1:n.1555+3_1555+9del
ENST00000688574.1:n.1555+3_1555+9del
ENST00000691124.1:n.2932_2938del
ENST00000342988.8:c.1447+3_1447+9del MANE Select	ENSP00000341551.3:n.1447+3_1447+9del
ENST00000342988.7:c.1447+3_1447+9del	ENSP00000341551.3:n.1447+3_1447+9del
ENST00000398417.6:c.1447+3_1447+9del	ENSP00000381452.1:n.1447+3_1447+9del
ENST00000588745.5:c.1159+3_1159+9del	ENSP00000464901.1:n.1159+3_1159+9del
ENST00000590499.1:n.505+3_505+9del
ENST00000591126.5:n.3448+3_3448+9del
ENST00000592186.5:c.1094+3_1094+9del	ENSP00000468611.1:n.1094+3_1094+9del
ENST00000593223.1:c.217_223del	ENSP00000466118.1:p.Lys73LeufsTer6
ENST00000611848.1:c.647+3_647+9del
NM_005359.5:c.1447+3_1447+9del , LRG_318t1:c.1447+3_1447+9del	NP_005350.1:n.1447+3_1447+9del
NM_005359.6:c.1447+3_1447+9del MANE Select	NP_005350.1:n.1447+3_1447+9del