Canonical Allele Identifier: CA2302981420
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51066915_51066919delinsCTTTA , CM000680.2:g.51066915_51066919delinsCTTTA GRCh38
NC_000018.9:g.48593285_48593289delinsCTTTA , CM000680.1:g.48593285_48593289delinsCTTTA GRCh37
NC_000018.8:g.46847283_46847287delinsCTTTA NCBI36
NG_013013.2:g.103876_103880delinsCTTTA , LRG_318:g.103876_103880delinsCTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1140-104_1140-100delinsCTTTA ENSP00000465878.2:n.1140-104_1140-100delinsCTTTA
ENST00000589076.6:c.1140-104_1140-100delinsCTTTA ENSP00000466934.2:n.1140-104_1140-100delinsCTTTA
ENST00000589941.2:c.1140-104_1140-100delinsCTTTA ENSP00000465874.2:n.1140-104_1140-100delinsCTTTA
ENST00000590061.2:c.1140-104_1140-100delinsCTTTA ENSP00000464772.2:n.1140-104_1140-100delinsCTTTA
ENST00000593223.2:c.1140-104_1140-100delinsCTTTA ENSP00000466118.2:n.1140-104_1140-100delinsCTTTA
ENST00000611848.2:c.1140-104_1140-100delinsCTTTA ENSP00000478613.2:n.1140-104_1140-100delinsCTTTA
ENST00000684953.1:n.2512-104_2512-100delinsCTTTA
ENST00000685090.1:n.1591-104_1591-100delinsCTTTA
ENST00000685232.1:n.1248-104_1248-100delinsCTTTA
ENST00000688574.1:n.1248-104_1248-100delinsCTTTA
ENST00000691124.1:n.2622-104_2622-100delinsCTTTA
ENST00000342988.8:c.1140-104_1140-100delinsCTTTA MANE Select ENSP00000341551.3:n.1140-104_1140-100delinsCTTTA
ENST00000342988.7:c.1140-104_1140-100delinsCTTTA ENSP00000341551.3:n.1140-104_1140-100delinsCTTTA
ENST00000398417.6:c.1140-104_1140-100delinsCTTTA ENSP00000381452.1:n.1140-104_1140-100delinsCTTTA
ENST00000588745.5:c.852-104_852-100delinsCTTTA ENSP00000464901.1:n.852-104_852-100delinsCTTTA
ENST00000590499.1:n.94_98delinsCTTTA
ENST00000591126.5:n.3141-104_3141-100delinsCTTTA
ENST00000592186.5:c.955+6999_955+7003delinsCTTTA ENSP00000468611.1:n.955+6999_955+7003delinsCTTTA
ENST00000611848.1:c.340-104_340-100delinsCTTTA
NM_005359.5:c.1140-104_1140-100delinsCTTTA , LRG_318t1:c.1140-104_1140-100delinsCTTTA NP_005350.1:n.1140-104_1140-100delinsCTTTA
NM_005359.6:c.1140-104_1140-100delinsCTTTA MANE Select NP_005350.1:n.1140-104_1140-100delinsCTTTA