Canonical Allele Identifier: CA2641864700

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51084407-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51084409del , CM000680.2:g.51084409del	GRCh38
NC_000018.9:g.48610779del , CM000680.1:g.48610779del	GRCh37
NC_000018.8:g.46864777del	NCBI36
NG_013013.2:g.121370del , LRG_318:g.121370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*5942del	ENSP00000465878.2:n.*5942del
ENST00000589076.6:c.*5942del	ENSP00000466934.2:n.*5942del
ENST00000589941.2:c.*5942del	ENSP00000465874.2:n.*5942del
ENST00000590061.2:c.*5942del	ENSP00000464772.2:n.*5942del
ENST00000688574.1:n.7709del
ENST00000342988.8:c.*5942del MANE Select	ENSP00000341551.3:n.*5942del
ENST00000342988.7:c.*5942del	ENSP00000341551.3:n.*5942del
ENST00000398417.6:c.*5942del	ENSP00000381452.1:n.*5942del
NM_005359.5:c.*5942del , LRG_318t1:c.*5942del	NP_005350.1:n.*5942del
NM_005359.6:c.*5942del MANE Select	NP_005350.1:n.*5942del