Canonical Allele Identifier: CA191750

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 185371
• ClinVar RCV Id: RCV002310738
• dbSNP Id: rs1555685974
• MyVariant Identifiers: chr18:g.48584820_48584827dupCATTACTG (hg19) ; chr18:g.48584827_48584828insCATTACTG (hg19) ; chr18:g.51058450_51058457dupCATTACTG (hg38) ; chr18:g.51058457_51058458insCATTACTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058450_51058457dup , CM000680.2:g.51058450_51058457dup	GRCh38
NC_000018.9:g.48584820_48584827dup , CM000680.1:g.48584820_48584827dup	GRCh37
NC_000018.8:g.46838818_46838825dup	NCBI36
NG_013013.2:g.95411_95418dup , LRG_318:g.95411_95418dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.898_904+1dup
ENST00000589076.6:c.898_904+1dup
ENST00000589941.2:c.898_904+1dup
ENST00000590061.2:c.898_904+1dup
ENST00000593223.2:c.898_904+1dup
ENST00000611848.2:c.898_904+1dup
ENST00000684953.1:n.2270_2276+1dup
ENST00000685232.1:n.1006_1012+1dup
ENST00000688307.1:n.156-1416_156-1409dup
ENST00000688574.1:n.1006_1012+1dup
ENST00000688903.1:n.1112_1118+1dup
ENST00000690892.1:n.1006_1012+1dup
ENST00000342988.8:c.898_904+1dup
ENST00000342988.7:c.898_904+1dup
ENST00000398417.6:c.898_904+1dup
ENST00000588745.5:c.667+3457_667+3464dup	ENSP00000464901.1:n.667+3457_667+3464dup
ENST00000591126.5:n.2899_2905+1dup
ENST00000592186.5:c.898_904+1dup
ENST00000611848.1:c.98_104+1dup
NM_005359.5:c.898_904+1dup , LRG_318t1:c.898_904+1dup
NM_005359.6:c.898_904+1dup