Canonical Allele Identifier: CA2580095840

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1764017
• ClinVar RCV Id: RCV002447996

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058412_51058413insGATA , CM000680.2:g.51058412_51058413insGATA	GRCh38
NC_000018.9:g.48584782_48584783insGATA , CM000680.1:g.48584782_48584783insGATA	GRCh37
NC_000018.8:g.46838780_46838781insGATA	NCBI36
NG_013013.2:g.95373_95374insGATA , LRG_318:g.95373_95374insGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.860_861insGATA	ENSP00000465878.2:p.His287GlnfsTer22
ENST00000589076.6:c.860_861insGATA	ENSP00000466934.2:p.His287GlnfsTer22
ENST00000589941.2:c.860_861insGATA	ENSP00000465874.2:p.His287GlnfsTer22
ENST00000590061.2:c.860_861insGATA	ENSP00000464772.2:p.His287GlnfsTer22
ENST00000593223.2:c.860_861insGATA	ENSP00000466118.2:p.His287GlnfsTer22
ENST00000611848.2:c.860_861insGATA	ENSP00000478613.2:p.His287GlnfsTer22
ENST00000684953.1:n.2232_2233insGATA
ENST00000685232.1:n.968_969insGATA
ENST00000688307.1:n.156-1454_156-1453insGATA
ENST00000688574.1:n.968_969insGATA
ENST00000688903.1:n.1074_1075insGATA
ENST00000690892.1:n.968_969insGATA
ENST00000342988.8:c.860_861insGATA MANE Select	ENSP00000341551.3:p.His287GlnfsTer22
ENST00000342988.7:c.860_861insGATA	ENSP00000341551.3:p.His287GlnfsTer22
ENST00000398417.6:c.860_861insGATA	ENSP00000381452.1:p.His287GlnfsTer22
ENST00000588745.5:c.667+3419_667+3420insGATA	ENSP00000464901.1:n.667+3419_667+3420insGATA
ENST00000591126.5:n.2861_2862insGATA
ENST00000592186.5:c.860_861insGATA	ENSP00000468611.1:p.His287GlnfsTer22
ENST00000611848.1:c.60_61insGATA
NM_005359.5:c.860_861insGATA , LRG_318t1:c.860_861insGATA	NP_005350.1:p.His287GlnfsTer22
NM_005359.6:c.860_861insGATA MANE Select	NP_005350.1:p.His287GlnfsTer22