Canonical Allele Identifier: CA629582396

Gene: SMAD4

Linked Data

• gnomAD v2: 18-48610383-CACACACACACACACACACACACACACACACAGGTCAGAGTTTAAGGCTTTCGAGTCATGACATTCTAGCTTTTGAATTGCGT-C
• MyVariant Identifiers: chr18:g.48610384_48610465del (hg19) ; chr18:g.51084014_51084095del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51084014_51084095del , CM000680.2:g.51084014_51084095del	GRCh38
NC_000018.9:g.48610384_48610465del , CM000680.1:g.48610384_48610465del	GRCh37
NC_000018.8:g.46864382_46864463del	NCBI36
NG_013013.2:g.120975_121056del , LRG_318:g.120975_121056del

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.*5547_*5628del	ENSP00000465878.2:n.*5547_*5628del
ENST00000589076.6:c.*5547_*5628del	ENSP00000466934.2:n.*5547_*5628del
ENST00000589941.2:c.*5547_*5628del	ENSP00000465874.2:n.*5547_*5628del
ENST00000590061.2:c.*5547_*5628del	ENSP00000464772.2:n.*5547_*5628del
ENST00000688574.1:n.7314_7395del
ENST00000342988.8:c.*5547_*5628del MANE Select	ENSP00000341551.3:n.*5547_*5628del
ENST00000342988.7:c.*5547_*5628del	ENSP00000341551.3:n.*5547_*5628del
ENST00000398417.6:c.*5547_*5628del	ENSP00000381452.1:n.*5547_*5628del
NM_005359.5:c.*5547_*5628del , LRG_318t1:c.*5547_*5628del	NP_005350.1:n.*5547_*5628del
NM_005359.6:c.*5547_*5628del MANE Select	NP_005350.1:n.*5547_*5628del