Canonical Allele Identifier: CA259266

Gene: SMAD4

Linked Data

• dbSNP Id: rs1555687599
• MyVariant Identifiers: chr18:g.48604764_48604765dupTA (hg19) ; chr18:g.48604765_48604766insTA (hg19) ; chr18:g.51078394_51078395dupTA (hg38) ; chr18:g.51078395_51078396insTA (hg38)
• PubMed: PMID:20101697

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078394_51078395dup , CM000680.2:g.51078394_51078395dup	GRCh38
NC_000018.9:g.48604764_48604765dup , CM000680.1:g.48604764_48604765dup	GRCh37
NC_000018.8:g.46858762_46858763dup	NCBI36
NG_013013.2:g.115355_115356dup , LRG_318:g.115355_115356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1586_1587dup	ENSP00000465878.2:p.His530TyrfsTer8
ENST00000589076.6:c.1586_1587dup	ENSP00000466934.2:p.His530TyrfsTer8
ENST00000589941.2:c.1586_1587dup	ENSP00000465874.2:p.His530TyrfsTer8
ENST00000590061.2:c.1586_1587dup	ENSP00000464772.2:p.His530TyrfsTer8
ENST00000593223.2:c.*1583_*1584dup	ENSP00000466118.2:n.*1583_*1584dup
ENST00000611848.2:c.*238_*239dup	ENSP00000478613.2:n.*238_*239dup
ENST00000684953.1:n.3601_3602dup
ENST00000685090.1:n.3516_3517dup
ENST00000685232.1:n.1807_1808dup
ENST00000688574.1:n.1694_1695dup
ENST00000691124.1:n.4547_4548dup
ENST00000342988.8:c.1586_1587dup MANE Select	ENSP00000341551.3:p.His530TyrfsTer8
ENST00000342988.7:c.1586_1587dup	ENSP00000341551.3:p.His530TyrfsTer8
ENST00000398417.6:c.1586_1587dup	ENSP00000381452.1:p.His530TyrfsTer8
ENST00000586253.1:n.308_309dup
ENST00000588745.5:c.1298_1299dup	ENSP00000464901.1:p.His434TyrfsTer8
ENST00000591126.5:n.3587_3588dup
ENST00000592186.5:c.1233_1234dup	ENSP00000468611.1:n.1233_1234dup
ENST00000611848.1:c.899_900dup
NM_005359.5:c.1586_1587dup , LRG_318t1:c.1586_1587dup	NP_005350.1:p.His530TyrfsTer8
NM_005359.6:c.1586_1587dup MANE Select	NP_005350.1:p.His530TyrfsTer8