Canonical Allele Identifier: CA2302981673

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067400_51067412delinsTTTTATTTATTTA , CM000680.2:g.51067400_51067412delinsTTTTATTTATTTA	GRCh38
NC_000018.9:g.48593770_48593782delinsTTTTATTTATTTA , CM000680.1:g.48593770_48593782delinsTTTTATTTATTTA	GRCh37
NC_000018.8:g.46847768_46847780delinsTTTTATTTATTTA	NCBI36
NG_013013.2:g.104361_104373delinsTTTTATTTATTTA , LRG_318:g.104361_104373delinsTTTTATTTATTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1308+213_1308+225delinsTTTTATTTATTTA	ENSP00000465878.2:n.1308+213_1308+225delinsTTTTATTTATTTA
ENST00000589076.6:c.1308+213_1308+225delinsTTTTATTTATTTA	ENSP00000466934.2:n.1308+213_1308+225delinsTTTTATTTATTTA
ENST00000589941.2:c.1308+213_1308+225delinsTTTTATTTATTTA	ENSP00000465874.2:n.1308+213_1308+225delinsTTTTATTTATTTA
ENST00000590061.2:c.1308+213_1308+225delinsTTTTATTTATTTA	ENSP00000464772.2:n.1308+213_1308+225delinsTTTTATTTATTTA
ENST00000593223.2:c.1308+213_1308+225delinsTTTTATTTATTTA	ENSP00000466118.2:n.1308+213_1308+225delinsTTTTATTTATTTA
ENST00000611848.2:c.1308+213_1308+225delinsTTTTATTTATTTA	ENSP00000478613.2:n.1308+213_1308+225delinsTTTTATTTATTTA
ENST00000684953.1:n.2680+213_2680+225delinsTTTTATTTATTTA
ENST00000685090.1:n.1759+213_1759+225delinsTTTTATTTATTTA
ENST00000685232.1:n.1416+213_1416+225delinsTTTTATTTATTTA
ENST00000688574.1:n.1416+213_1416+225delinsTTTTATTTATTTA
ENST00000691124.1:n.2790+213_2790+225delinsTTTTATTTATTTA
ENST00000342988.8:c.1308+213_1308+225delinsTTTTATTTATTTA MANE Select	ENSP00000341551.3:n.1308+213_1308+225delinsTTTTATTTATTTA
ENST00000342988.7:c.1308+213_1308+225delinsTTTTATTTATTTA	ENSP00000341551.3:n.1308+213_1308+225delinsTTTTATTTATTTA
ENST00000398417.6:c.1308+213_1308+225delinsTTTTATTTATTTA	ENSP00000381452.1:n.1308+213_1308+225delinsTTTTATTTATTTA
ENST00000588745.5:c.1020+213_1020+225delinsTTTTATTTATTTA	ENSP00000464901.1:n.1020+213_1020+225delinsTTTTATTTATTTA
ENST00000590499.1:n.366+213_366+225delinsTTTTATTTATTTA
ENST00000591126.5:n.3309+213_3309+225delinsTTTTATTTATTTA
ENST00000592186.5:c.955+7484_955+7496delinsTTTTATTTATTTA	ENSP00000468611.1:n.955+7484_955+7496delinsTTTTATTTATTTA
ENST00000593223.1:c.75+213_75+225delinsTTTTATTTATTTA	ENSP00000466118.1:n.75+213_75+225delinsTTTTATTTATTTA
ENST00000611848.1:c.508+213_508+225delinsTTTTATTTATTTA
NM_005359.5:c.1308+213_1308+225delinsTTTTATTTATTTA , LRG_318t1:c.1308+213_1308+225delinsTTTTATTTATTTA	NP_005350.1:n.1308+213_1308+225delinsTTTTATTTATTTA
NM_005359.6:c.1308+213_1308+225delinsTTTTATTTATTTA MANE Select	NP_005350.1:n.1308+213_1308+225delinsTTTTATTTATTTA