Canonical Allele Identifier: CA2302986920

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078371_51078373delinsACC , CM000680.2:g.51078371_51078373delinsACC	GRCh38
NC_000018.9:g.48604741_48604743delinsACC , CM000680.1:g.48604741_48604743delinsACC	GRCh37
NC_000018.8:g.46858739_46858741delinsACC	NCBI36
NG_013013.2:g.115332_115334delinsACC , LRG_318:g.115332_115334delinsACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1563_1565delinsACC	ENSP00000465878.2:p.Thr521=
ENST00000589076.6:c.1563_1565delinsACC	ENSP00000466934.2:p.Thr521=
ENST00000589941.2:c.1563_1565delinsACC	ENSP00000465874.2:p.Thr521=
ENST00000590061.2:c.1563_1565delinsACC	ENSP00000464772.2:p.Thr521=
ENST00000593223.2:c.*1560_*1562delinsACC	ENSP00000466118.2:n.*1560_*1562delinsACC
ENST00000611848.2:c.*215_*217delinsACC	ENSP00000478613.2:n.*215_*217delinsACC
ENST00000684953.1:n.3578_3580delinsACC
ENST00000685090.1:n.3493_3495delinsACC
ENST00000685232.1:n.1784_1786delinsACC
ENST00000688574.1:n.1671_1673delinsACC
ENST00000691124.1:n.4524_4526delinsACC
ENST00000342988.8:c.1563_1565delinsACC MANE Select	ENSP00000341551.3:p.Thr521=
ENST00000342988.7:c.1563_1565delinsACC	ENSP00000341551.3:p.Thr521=
ENST00000398417.6:c.1563_1565delinsACC	ENSP00000381452.1:p.Thr521=
ENST00000586253.1:n.285_287delinsACC
ENST00000588745.5:c.1275_1277delinsACC	ENSP00000464901.1:p.Thr425=
ENST00000591126.5:n.3564_3566delinsACC
ENST00000592186.5:c.1210_1212delinsACC	ENSP00000468611.1:n.1210_1212delinsACC
ENST00000611848.1:c.876_878delinsACC
NM_005359.5:c.1563_1565delinsACC , LRG_318t1:c.1563_1565delinsACC	NP_005350.1:p.Thr521=
NM_005359.6:c.1563_1565delinsACC MANE Select	NP_005350.1:p.Thr521=