Canonical Allele Identifier: CA990249363

Gene: SMAD4

Linked Data

• dbSNP Id: rs1910697280
• gnomAD v3: 18-51084343-GTAGATGA-G
• gnomAD v4: 18-51084343-GTAGATGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51084345_51084351del , CM000680.2:g.51084345_51084351del	GRCh38
NC_000018.9:g.48610715_48610721del , CM000680.1:g.48610715_48610721del	GRCh37
NC_000018.8:g.46864713_46864719del	NCBI36
NG_013013.2:g.121306_121312del , LRG_318:g.121306_121312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*5878_*5884del	ENSP00000465878.2:n.*5878_*5884del
ENST00000589076.6:c.*5878_*5884del	ENSP00000466934.2:n.*5878_*5884del
ENST00000589941.2:c.*5878_*5884del	ENSP00000465874.2:n.*5878_*5884del
ENST00000590061.2:c.*5878_*5884del	ENSP00000464772.2:n.*5878_*5884del
ENST00000688574.1:n.7645_7651del
ENST00000342988.8:c.*5878_*5884del MANE Select	ENSP00000341551.3:n.*5878_*5884del
ENST00000342988.7:c.*5878_*5884del	ENSP00000341551.3:n.*5878_*5884del
ENST00000398417.6:c.*5878_*5884del	ENSP00000381452.1:n.*5878_*5884del
NM_005359.5:c.*5878_*5884del , LRG_318t1:c.*5878_*5884del	NP_005350.1:n.*5878_*5884del
NM_005359.6:c.*5878_*5884del MANE Select	NP_005350.1:n.*5878_*5884del