Canonical Allele Identifier: CA1584844848

Gene: SMAD5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136154210_136154212delinsCCT , CM000667.2:g.136154210_136154212delinsCCT	GRCh38
NC_000005.9:g.135489899_135489901delinsCCT , CM000667.1:g.135489899_135489901delinsCCT	GRCh37
NC_000005.8:g.135517798_135517800delinsCCT	NCBI36
NG_032037.1:g.26364_26366delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.403+47_403+49delinsCCT	ENSP00000426696.2:n.403+47_403+49delinsCCT
ENST00000545279.6:c.403+47_403+49delinsCCT MANE Select	ENSP00000441954.2:n.403+47_403+49delinsCCT
ENST00000514777.1:n.60-18224_60-18222delinsCCT
ENST00000545279.5:c.403+47_403+49delinsCCT	ENSP00000441954.2:n.403+47_403+49delinsCCT
ENST00000545620.5:c.403+47_403+49delinsCCT	ENSP00000446474.2:n.403+47_403+49delinsCCT
NM_001001419.2:c.403+47_403+49delinsCCT	NP_001001419.1:n.403+47_403+49delinsCCT
NM_001001420.2:c.403+47_403+49delinsCCT	NP_001001420.1:n.403+47_403+49delinsCCT
NM_005903.6:c.403+47_403+49delinsCCT	NP_005894.3:n.403+47_403+49delinsCCT
XR_948810.1:n.1973+1215_1973+1217delinsAGG
XM_017009470.2:c.403+47_403+49delinsCCT	XP_016864959.1:n.403+47_403+49delinsCCT
XM_024446046.1:c.403+47_403+49delinsCCT	XP_024301814.1:n.403+47_403+49delinsCCT
XM_024446047.1:c.403+47_403+49delinsCCT	XP_024301815.1:n.403+47_403+49delinsCCT
NM_005903.7:c.403+47_403+49delinsCCT MANE Select	NP_005894.3:n.403+47_403+49delinsCCT
NM_001001419.3:c.403+47_403+49delinsCCT	NP_001001419.1:n.403+47_403+49delinsCCT
NM_001001420.3:c.403+47_403+49delinsCCT	NP_001001420.1:n.403+47_403+49delinsCCT