Canonical Allele Identifier: CA658684192

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 492503
• ClinVar RCV Id: RCV003762809
• dbSNP Id: rs1555686098
• gnomAD v3: 18-51059932-AATTGATTTCCTGTATTTAG-A
• gnomAD v4: 18-51059932-AATTGATTTCCTGTATTTAG-A
• MyVariant Identifiers: chr18:g.48586311_48586329del (hg19) ; chr18:g.51059941_51059959del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059941_51059959del , CM000680.2:g.51059941_51059959del	GRCh38
NC_000018.9:g.48586311_48586329del , CM000680.1:g.48586311_48586329del	GRCh37
NC_000018.8:g.46840309_46840327del	NCBI36
NG_013013.2:g.96902_96920del , LRG_318:g.96902_96920del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.955+25_955+43del	ENSP00000465878.2:n.955+25_955+43del
ENST00000589076.6:c.955+25_955+43del	ENSP00000466934.2:n.955+25_955+43del
ENST00000589941.2:c.955+25_955+43del	ENSP00000465874.2:n.955+25_955+43del
ENST00000590061.2:c.955+25_955+43del	ENSP00000464772.2:n.955+25_955+43del
ENST00000593223.2:c.955+25_955+43del	ENSP00000466118.2:n.955+25_955+43del
ENST00000611848.2:c.955+25_955+43del	ENSP00000478613.2:n.955+25_955+43del
ENST00000684953.1:n.2327+25_2327+43del
ENST00000685090.1:n.1406+25_1406+43del
ENST00000685232.1:n.1063+25_1063+43del
ENST00000688307.1:n.206+25_206+43del
ENST00000688574.1:n.1063+25_1063+43del
ENST00000688903.1:n.1169+25_1169+43del
ENST00000690892.1:n.1088_1106del
ENST00000342988.8:c.955+25_955+43del MANE Select	ENSP00000341551.3:n.955+25_955+43del
ENST00000342988.7:c.955+25_955+43del	ENSP00000341551.3:n.955+25_955+43del
ENST00000398417.6:c.955+25_955+43del	ENSP00000381452.1:n.955+25_955+43del
ENST00000588745.5:c.667+4948_667+4966del	ENSP00000464901.1:n.667+4948_667+4966del
ENST00000591126.5:n.2956+25_2956+43del
ENST00000592186.5:c.955+25_955+43del	ENSP00000468611.1:n.955+25_955+43del
ENST00000611848.1:c.155+25_155+43del
NM_005359.5:c.955+25_955+43del , LRG_318t1:c.955+25_955+43del	NP_005350.1:n.955+25_955+43del
NM_005359.6:c.955+25_955+43del MANE Select	NP_005350.1:n.955+25_955+43del