Canonical Allele Identifier: CA919985122

Gene: SMAD4

Linked Data

• dbSNP Id: rs1599195852

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065798_51065800del , CM000680.2:g.51065798_51065800del	GRCh38
NC_000018.9:g.48592168_48592170del , CM000680.1:g.48592168_48592170del	GRCh37
NC_000018.8:g.46846166_46846168del	NCBI36
NG_013013.2:g.102759_102761del , LRG_318:g.102759_102761del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+192_1139+194del	ENSP00000465878.2:n.1139+192_1139+194del
ENST00000589076.6:c.1139+192_1139+194del	ENSP00000466934.2:n.1139+192_1139+194del
ENST00000589941.2:c.1139+192_1139+194del	ENSP00000465874.2:n.1139+192_1139+194del
ENST00000590061.2:c.1139+192_1139+194del	ENSP00000464772.2:n.1139+192_1139+194del
ENST00000593223.2:c.1139+192_1139+194del	ENSP00000466118.2:n.1139+192_1139+194del
ENST00000611848.2:c.1139+192_1139+194del	ENSP00000478613.2:n.1139+192_1139+194del
ENST00000684953.1:n.2511+192_2511+194del
ENST00000685090.1:n.1590+192_1590+194del
ENST00000685232.1:n.1247+192_1247+194del
ENST00000688307.1:n.582_584del
ENST00000688574.1:n.1247+192_1247+194del
ENST00000688903.1:n.1545_1547del
ENST00000691124.1:n.2621+192_2621+194del
ENST00000342988.8:c.1139+192_1139+194del MANE Select	ENSP00000341551.3:n.1139+192_1139+194del
ENST00000342988.7:c.1139+192_1139+194del	ENSP00000341551.3:n.1139+192_1139+194del
ENST00000398417.6:c.1139+192_1139+194del	ENSP00000381452.1:n.1139+192_1139+194del
ENST00000588745.5:c.851+192_851+194del	ENSP00000464901.1:n.851+192_851+194del
ENST00000591126.5:n.3140+192_3140+194del
ENST00000592186.5:c.955+5882_955+5884del	ENSP00000468611.1:n.955+5882_955+5884del
ENST00000611848.1:c.339+192_339+194del
NM_005359.5:c.1139+192_1139+194del , LRG_318t1:c.1139+192_1139+194del	NP_005350.1:n.1139+192_1139+194del
NM_005359.6:c.1139+192_1139+194del MANE Select	NP_005350.1:n.1139+192_1139+194del