Canonical Allele Identifier: CA780222682

Gene: SMAD4

Linked Data

• dbSNP Id: rs1346458102
• gnomAD v3: 18-51058021-T-TTA
• gnomAD v4: 18-51058021-T-TTA
• MyVariant Identifiers: chr18:g.48584391_48584392insTA (hg19) ; chr18:g.51058021_51058022insTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058024_51058025dup , CM000680.2:g.51058024_51058025dup	GRCh38
NC_000018.9:g.48584394_48584395dup , CM000680.1:g.48584394_48584395dup	GRCh37
NC_000018.8:g.46838392_46838393dup	NCBI36
NG_013013.2:g.94985_94986dup , LRG_318:g.94985_94986dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.668-101_668-100dup	ENSP00000465878.2:n.668-101_668-100dup
ENST00000589076.6:c.668-101_668-100dup	ENSP00000466934.2:n.668-101_668-100dup
ENST00000589941.2:c.668-101_668-100dup	ENSP00000465874.2:n.668-101_668-100dup
ENST00000590061.2:c.668-101_668-100dup	ENSP00000464772.2:n.668-101_668-100dup
ENST00000593223.2:c.668-101_668-100dup	ENSP00000466118.2:n.668-101_668-100dup
ENST00000611848.2:c.668-101_668-100dup	ENSP00000478613.2:n.668-101_668-100dup
ENST00000684953.1:n.2040-101_2040-100dup
ENST00000685232.1:n.675_676dup
ENST00000688307.1:n.156-1842_156-1841dup
ENST00000688574.1:n.675_676dup
ENST00000688903.1:n.781_782dup
ENST00000690892.1:n.675_676dup
ENST00000342988.8:c.668-101_668-100dup MANE Select	ENSP00000341551.3:n.668-101_668-100dup
ENST00000342988.7:c.668-101_668-100dup	ENSP00000341551.3:n.668-101_668-100dup
ENST00000398417.6:c.668-101_668-100dup	ENSP00000381452.1:n.668-101_668-100dup
ENST00000588745.5:c.667+3031_667+3032dup	ENSP00000464901.1:n.667+3031_667+3032dup
ENST00000590722.2:c.*844-101_*844-100dup	ENSP00000465737.1:n.*844-101_*844-100dup
ENST00000591126.5:n.2669-101_2669-100dup
ENST00000592186.5:c.668-101_668-100dup	ENSP00000468611.1:n.668-101_668-100dup
ENST00000592911.5:n.446-101_446-100dup
NM_005359.5:c.668-101_668-100dup , LRG_318t1:c.668-101_668-100dup	NP_005350.1:n.668-101_668-100dup
NM_005359.6:c.668-101_668-100dup MANE Select	NP_005350.1:n.668-101_668-100dup