Canonical Allele Identifier: CA2576506189

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065704_51065706dup , CM000680.2:g.51065704_51065706dup	GRCh38
NC_000018.9:g.48592074_48592076dup , CM000680.1:g.48592074_48592076dup	GRCh37
NC_000018.8:g.46846072_46846074dup	NCBI36
NG_013013.2:g.102665_102667dup , LRG_318:g.102665_102667dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139+98_1139+100dup	ENSP00000465878.2:n.1139+98_1139+100dup
ENST00000589076.6:c.1139+98_1139+100dup	ENSP00000466934.2:n.1139+98_1139+100dup
ENST00000589941.2:c.1139+98_1139+100dup	ENSP00000465874.2:n.1139+98_1139+100dup
ENST00000590061.2:c.1139+98_1139+100dup	ENSP00000464772.2:n.1139+98_1139+100dup
ENST00000593223.2:c.1139+98_1139+100dup	ENSP00000466118.2:n.1139+98_1139+100dup
ENST00000611848.2:c.1139+98_1139+100dup	ENSP00000478613.2:n.1139+98_1139+100dup
ENST00000684953.1:n.2511+98_2511+100dup
ENST00000685090.1:n.1590+98_1590+100dup
ENST00000685232.1:n.1247+98_1247+100dup
ENST00000688307.1:n.488_490dup
ENST00000688574.1:n.1247+98_1247+100dup
ENST00000688903.1:n.1451_1453dup
ENST00000691124.1:n.2621+98_2621+100dup
ENST00000342988.8:c.1139+98_1139+100dup MANE Select	ENSP00000341551.3:n.1139+98_1139+100dup
ENST00000342988.7:c.1139+98_1139+100dup	ENSP00000341551.3:n.1139+98_1139+100dup
ENST00000398417.6:c.1139+98_1139+100dup	ENSP00000381452.1:n.1139+98_1139+100dup
ENST00000588745.5:c.851+98_851+100dup	ENSP00000464901.1:n.851+98_851+100dup
ENST00000591126.5:n.3140+98_3140+100dup
ENST00000592186.5:c.955+5788_955+5790dup	ENSP00000468611.1:n.955+5788_955+5790dup
ENST00000611848.1:c.339+98_339+100dup
NM_005359.5:c.1139+98_1139+100dup , LRG_318t1:c.1139+98_1139+100dup	NP_005350.1:n.1139+98_1139+100dup
NM_005359.6:c.1139+98_1139+100dup MANE Select	NP_005350.1:n.1139+98_1139+100dup