Canonical Allele Identifier: CA2830539653

Gene: SMAD5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136154155_136154156insT , CM000667.2:g.136154155_136154156insT	GRCh38
NC_000005.9:g.135489844_135489845insT , CM000667.1:g.135489844_135489845insT	GRCh37
NC_000005.8:g.135517743_135517744insT	NCBI36
NG_032037.1:g.26309_26310insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.395_396insT	ENSP00000426696.2:p.Glu132AspfsTer14
ENST00000545279.6:c.395_396insT MANE Select	ENSP00000441954.2:p.Glu132AspfsTer14
ENST00000511116.5:c.395_396insT	ENSP00000424279.1:p.Glu132AspfsTer?
ENST00000514777.1:n.60-18279_60-18278insT
ENST00000545279.5:c.395_396insT	ENSP00000441954.2:p.Glu132AspfsTer14
ENST00000545620.5:c.395_396insT	ENSP00000446474.2:p.Glu132AspfsTer14
NM_001001419.2:c.395_396insT	NP_001001419.1:p.Glu132AspfsTer14
NM_001001420.2:c.395_396insT	NP_001001420.1:p.Glu132AspfsTer14
NM_005903.6:c.395_396insT	NP_005894.3:p.Glu132AspfsTer14
XR_948810.1:n.1973+1271_1973+1272insA
XM_017009470.2:c.395_396insT	XP_016864959.1:p.Glu132AspfsTer14
XM_024446046.1:c.395_396insT	XP_024301814.1:p.Glu132AspfsTer14
XM_024446047.1:c.395_396insT	XP_024301815.1:p.Glu132AspfsTer14
NM_005903.7:c.395_396insT MANE Select	NP_005894.3:p.Glu132AspfsTer14
NM_001001419.3:c.395_396insT	NP_001001419.1:p.Glu132AspfsTer14
NM_001001420.3:c.395_396insT	NP_001001420.1:p.Glu132AspfsTer14