Canonical Allele Identifier: CA629582419

Gene: SMAD4

Linked Data

• dbSNP Id: rs1334332705
• gnomAD v2: 18-48610409-CACACAG-C
• gnomAD v3: 18-51084039-CACACAG-C
• gnomAD v4: 18-51084039-CACACAG-C
• MyVariant Identifiers: chr18:g.48610410_48610415del (hg19) ; chr18:g.51084040_51084045del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51084040_51084045del , CM000680.2:g.51084040_51084045del	GRCh38
NC_000018.9:g.48610410_48610415del , CM000680.1:g.48610410_48610415del	GRCh37
NC_000018.8:g.46864408_46864413del	NCBI36
NG_013013.2:g.121001_121006del , LRG_318:g.121001_121006del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.*5573_*5578del	ENSP00000465878.2:n.*5573_*5578del
ENST00000589076.6:c.*5573_*5578del	ENSP00000466934.2:n.*5573_*5578del
ENST00000589941.2:c.*5573_*5578del	ENSP00000465874.2:n.*5573_*5578del
ENST00000590061.2:c.*5573_*5578del	ENSP00000464772.2:n.*5573_*5578del
ENST00000688574.1:n.7340_7345del
ENST00000342988.8:c.*5573_*5578del MANE Select	ENSP00000341551.3:n.*5573_*5578del
ENST00000342988.7:c.*5573_*5578del	ENSP00000341551.3:n.*5573_*5578del
ENST00000398417.6:c.*5573_*5578del	ENSP00000381452.1:n.*5573_*5578del
NM_005359.5:c.*5573_*5578del , LRG_318t1:c.*5573_*5578del	NP_005350.1:n.*5573_*5578del
NM_005359.6:c.*5573_*5578del MANE Select	NP_005350.1:n.*5573_*5578del