Canonical Allele Identifier: CA8965716

Gene: SMAD4

Linked Data

• dbSNP Id: rs749026885
• ExAC: 18:48573385 CAT / C
• gnomAD v2: 18-48573385-CAT-C
• gnomAD v4: 18-51047015-CAT-C
• MyVariant Identifiers: chr18:g.48573386_48573387del (hg19) ; chr18:g.51047016_51047017del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047018_51047019del , CM000680.2:g.51047018_51047019del	GRCh38
NC_000018.9:g.48573388_48573389del , CM000680.1:g.48573388_48573389del	GRCh37
NC_000018.8:g.46827386_46827387del	NCBI36
NG_013013.2:g.83979_83980del , LRG_318:g.83979_83980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-29_-28del	ENSP00000465878.2:n.-29_-28del
ENST00000589076.6:c.-29_-28del	ENSP00000466934.2:n.-29_-28del
ENST00000589941.2:c.-29_-28del	ENSP00000465874.2:n.-29_-28del
ENST00000590061.2:c.-29_-28del	ENSP00000464772.2:n.-29_-28del
ENST00000593223.2:c.-29_-28del	ENSP00000466118.2:n.-29_-28del
ENST00000611848.2:c.-29_-28del	ENSP00000478613.2:n.-29_-28del
ENST00000342988.8:c.-29_-28del MANE Select	ENSP00000341551.3:n.-29_-28del
ENST00000342988.7:c.-29_-28del	ENSP00000341551.3:n.-29_-28del
ENST00000398417.6:c.-29_-28del	ENSP00000381452.1:n.-29_-28del
ENST00000588256.1:n.433_434del
ENST00000588860.5:c.-29_-28del	ENSP00000465878.1:n.-29_-28del
ENST00000589076.5:c.-29_-28del	ENSP00000466934.1:n.-29_-28del
ENST00000589941.1:c.-29_-28del	ENSP00000465874.1:n.-29_-28del
ENST00000590061.1:c.-29_-28del	ENSP00000464772.1:n.-29_-28del
ENST00000590722.2:c.256_257del	ENSP00000465737.1:p.Ile86LeufsTer3
ENST00000591914.5:c.-29_-28del	ENSP00000466941.1:n.-29_-28del
ENST00000592911.5:n.28-1668_28-1667del
NM_005359.5:c.-29_-28del , LRG_318t1:c.-29_-28del	NP_005350.1:n.-29_-28del
NM_005359.6:c.-29_-28del MANE Select	NP_005350.1:n.-29_-28del