Canonical Allele Identifier: CA2641838471

Gene: SMAD4

Linked Data

• gnomAD v4: 18-51065741-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065743_51065744del , CM000680.2:g.51065743_51065744del	GRCh38
NC_000018.9:g.48592113_48592114del , CM000680.1:g.48592113_48592114del	GRCh37
NC_000018.8:g.46846111_46846112del	NCBI36
NG_013013.2:g.102704_102705del , LRG_318:g.102704_102705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+137_1139+138del	ENSP00000465878.2:n.1139+137_1139+138del
ENST00000589076.6:c.1139+137_1139+138del	ENSP00000466934.2:n.1139+137_1139+138del
ENST00000589941.2:c.1139+137_1139+138del	ENSP00000465874.2:n.1139+137_1139+138del
ENST00000590061.2:c.1139+137_1139+138del	ENSP00000464772.2:n.1139+137_1139+138del
ENST00000593223.2:c.1139+137_1139+138del	ENSP00000466118.2:n.1139+137_1139+138del
ENST00000611848.2:c.1139+137_1139+138del	ENSP00000478613.2:n.1139+137_1139+138del
ENST00000684953.1:n.2511+137_2511+138del
ENST00000685090.1:n.1590+137_1590+138del
ENST00000685232.1:n.1247+137_1247+138del
ENST00000688307.1:n.527_528del
ENST00000688574.1:n.1247+137_1247+138del
ENST00000688903.1:n.1490_1491del
ENST00000691124.1:n.2621+137_2621+138del
ENST00000342988.8:c.1139+137_1139+138del MANE Select	ENSP00000341551.3:n.1139+137_1139+138del
ENST00000342988.7:c.1139+137_1139+138del	ENSP00000341551.3:n.1139+137_1139+138del
ENST00000398417.6:c.1139+137_1139+138del	ENSP00000381452.1:n.1139+137_1139+138del
ENST00000588745.5:c.851+137_851+138del	ENSP00000464901.1:n.851+137_851+138del
ENST00000591126.5:n.3140+137_3140+138del
ENST00000592186.5:c.955+5827_955+5828del	ENSP00000468611.1:n.955+5827_955+5828del
ENST00000611848.1:c.339+137_339+138del
NM_005359.5:c.1139+137_1139+138del , LRG_318t1:c.1139+137_1139+138del	NP_005350.1:n.1139+137_1139+138del
NM_005359.6:c.1139+137_1139+138del MANE Select	NP_005350.1:n.1139+137_1139+138del