Canonical Allele Identifier: CA2641839533

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51078637-A-ATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078645_51078647dup , CM000680.2:g.51078645_51078647dup	GRCh38
NC_000018.9:g.48605015_48605017dup , CM000680.1:g.48605015_48605017dup	GRCh37
NC_000018.8:g.46859013_46859015dup	NCBI36
NG_013013.2:g.115606_115608dup , LRG_318:g.115606_115608dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.*178_*180dup	ENSP00000465878.2:n.*178_*180dup
ENST00000589076.6:c.*178_*180dup	ENSP00000466934.2:n.*178_*180dup
ENST00000589941.2:c.*178_*180dup	ENSP00000465874.2:n.*178_*180dup
ENST00000590061.2:c.*178_*180dup	ENSP00000464772.2:n.*178_*180dup
ENST00000593223.2:c.*1834_*1836dup	ENSP00000466118.2:n.*1834_*1836dup
ENST00000611848.2:c.*489_*491dup	ENSP00000478613.2:n.*489_*491dup
ENST00000684953.1:n.3852_3854dup
ENST00000685090.1:n.3767_3769dup
ENST00000685232.1:n.2058_2060dup
ENST00000688574.1:n.1945_1947dup
ENST00000691124.1:n.4798_4800dup
ENST00000342988.8:c.*178_*180dup MANE Select	ENSP00000341551.3:n.*178_*180dup
ENST00000342988.7:c.*178_*180dup	ENSP00000341551.3:n.*178_*180dup
ENST00000398417.6:c.*178_*180dup	ENSP00000381452.1:n.*178_*180dup
ENST00000586253.1:n.559_561dup
ENST00000591126.5:n.3838_3840dup
ENST00000611848.1:c.1150_1152dup
NM_005359.5:c.*178_*180dup , LRG_318t1:c.*178_*180dup	NP_005350.1:n.*178_*180dup
NM_005359.6:c.*178_*180dup MANE Select	NP_005350.1:n.*178_*180dup