Canonical Allele Identifier: CA629582354

Gene: SMAD4

Linked Data

• dbSNP Id: rs1284595953
• gnomAD v2: 18-48610359-AACGCGCGTGCGC-A
• gnomAD v3: 18-51083989-AACGCGCGTGCGC-A
• gnomAD v4: 18-51083989-AACGCGCGTGCGC-A
• MyVariant Identifiers: chr18:g.48610360_48610371del (hg19) ; chr18:g.51083990_51084001del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51083997_51084008del , CM000680.2:g.51083997_51084008del	GRCh38
NC_000018.9:g.48610367_48610378del , CM000680.1:g.48610367_48610378del	GRCh37
NC_000018.8:g.46864365_46864376del	NCBI36
NG_013013.2:g.120958_120969del , LRG_318:g.120958_120969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*5530_*5541del	ENSP00000465878.2:n.*5530_*5541del
ENST00000589076.6:c.*5530_*5541del	ENSP00000466934.2:n.*5530_*5541del
ENST00000589941.2:c.*5530_*5541del	ENSP00000465874.2:n.*5530_*5541del
ENST00000590061.2:c.*5530_*5541del	ENSP00000464772.2:n.*5530_*5541del
ENST00000688574.1:n.7297_7308del
ENST00000342988.8:c.*5530_*5541del MANE Select	ENSP00000341551.3:n.*5530_*5541del
ENST00000342988.7:c.*5530_*5541del	ENSP00000341551.3:n.*5530_*5541del
ENST00000398417.6:c.*5530_*5541del	ENSP00000381452.1:n.*5530_*5541del
NM_005359.5:c.*5530_*5541del , LRG_318t1:c.*5530_*5541del	NP_005350.1:n.*5530_*5541del
NM_005359.6:c.*5530_*5541del MANE Select	NP_005350.1:n.*5530_*5541del