Canonical Allele Identifier: CA300091073

Gene: SMAD4

Linked Data

• dbSNP Id: rs917113624
• MyVariant Identifiers: chr18:g.48592164_48592165del (hg19) ; chr18:g.51065794_51065795del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065797_51065798del , CM000680.2:g.51065797_51065798del	GRCh38
NC_000018.9:g.48592167_48592168del , CM000680.1:g.48592167_48592168del	GRCh37
NC_000018.8:g.46846165_46846166del	NCBI36
NG_013013.2:g.102758_102759del , LRG_318:g.102758_102759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+191_1139+192del	ENSP00000465878.2:n.1139+191_1139+192del
ENST00000589076.6:c.1139+191_1139+192del	ENSP00000466934.2:n.1139+191_1139+192del
ENST00000589941.2:c.1139+191_1139+192del	ENSP00000465874.2:n.1139+191_1139+192del
ENST00000590061.2:c.1139+191_1139+192del	ENSP00000464772.2:n.1139+191_1139+192del
ENST00000593223.2:c.1139+191_1139+192del	ENSP00000466118.2:n.1139+191_1139+192del
ENST00000611848.2:c.1139+191_1139+192del	ENSP00000478613.2:n.1139+191_1139+192del
ENST00000684953.1:n.2511+191_2511+192del
ENST00000685090.1:n.1590+191_1590+192del
ENST00000685232.1:n.1247+191_1247+192del
ENST00000688307.1:n.581_582del
ENST00000688574.1:n.1247+191_1247+192del
ENST00000688903.1:n.1544_1545del
ENST00000691124.1:n.2621+191_2621+192del
ENST00000342988.8:c.1139+191_1139+192del MANE Select	ENSP00000341551.3:n.1139+191_1139+192del
ENST00000342988.7:c.1139+191_1139+192del	ENSP00000341551.3:n.1139+191_1139+192del
ENST00000398417.6:c.1139+191_1139+192del	ENSP00000381452.1:n.1139+191_1139+192del
ENST00000588745.5:c.851+191_851+192del	ENSP00000464901.1:n.851+191_851+192del
ENST00000591126.5:n.3140+191_3140+192del
ENST00000592186.5:c.955+5881_955+5882del	ENSP00000468611.1:n.955+5881_955+5882del
ENST00000611848.1:c.339+191_339+192del
NM_005359.5:c.1139+191_1139+192del , LRG_318t1:c.1139+191_1139+192del	NP_005350.1:n.1139+191_1139+192del
NM_005359.6:c.1139+191_1139+192del MANE Select	NP_005350.1:n.1139+191_1139+192del