Canonical Allele Identifier: CA2838032064

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058210_51058217delinsGTAG , CM000680.2:g.51058210_51058217delinsGTAG	GRCh38
NC_000018.9:g.48584580_48584587delinsGTAG , CM000680.1:g.48584580_48584587delinsGTAG	GRCh37
NC_000018.8:g.46838578_46838585delinsGTAG	NCBI36
NG_013013.2:g.95171_95178delinsGTAG , LRG_318:g.95171_95178delinsGTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.753_760delinsGTAG	ENSP00000465878.2:p.Asn251LysfsTer2
ENST00000589076.6:c.753_760delinsGTAG	ENSP00000466934.2:p.Asn251LysfsTer2
ENST00000589941.2:c.753_760delinsGTAG	ENSP00000465874.2:p.Asn251LysfsTer2
ENST00000590061.2:c.753_760delinsGTAG	ENSP00000464772.2:p.Asn251LysfsTer2
ENST00000593223.2:c.753_760delinsGTAG	ENSP00000466118.2:p.Asn251LysfsTer2
ENST00000611848.2:c.753_760delinsGTAG	ENSP00000478613.2:p.Asn251LysfsTer2
ENST00000684953.1:n.2125_2132delinsGTAG
ENST00000685232.1:n.861_868delinsGTAG
ENST00000688307.1:n.156-1656_156-1649delinsGTAG
ENST00000688574.1:n.861_868delinsGTAG
ENST00000688903.1:n.967_974delinsGTAG
ENST00000690892.1:n.861_868delinsGTAG
ENST00000342988.8:c.753_760delinsGTAG MANE Select	ENSP00000341551.3:p.Asn251LysfsTer2
ENST00000342988.7:c.753_760delinsGTAG	ENSP00000341551.3:p.Asn251LysfsTer2
ENST00000398417.6:c.753_760delinsGTAG	ENSP00000381452.1:p.Asn251LysfsTer2
ENST00000588745.5:c.667+3217_667+3224delinsGTAG	ENSP00000464901.1:n.667+3217_667+3224delinsGTAG
ENST00000591126.5:n.2754_2761delinsGTAG
ENST00000592186.5:c.753_760delinsGTAG	ENSP00000468611.1:p.Asn251LysfsTer2
NM_005359.5:c.753_760delinsGTAG , LRG_318t1:c.753_760delinsGTAG	NP_005350.1:p.Asn251LysfsTer2
NM_005359.6:c.753_760delinsGTAG MANE Select	NP_005350.1:p.Asn251LysfsTer2