Canonical Allele Identifier: CA2768531169

Gene: SMAD5 SMAD5-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136134534_136134543del , CM000667.2:g.136134534_136134543del	GRCh38
NC_000005.9:g.135470223_135470232del , CM000667.1:g.135470223_135470232del	GRCh37
NC_000005.8:g.135498122_135498131del	NCBI36
NG_032037.1:g.6688_6697del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.-245+575_-245+584del (SMAD5)	ENSP00000426696.2:n.-245+575_-245+584del
ENST00000545279.6:c.-245+1572_-245+1581del (SMAD5) MANE Select	ENSP00000441954.2:n.-245+1572_-245+1581del
ENST00000506223.1:c.-170+575_-170+584del (SMAD5)	ENSP00000422954.1:n.-170+575_-170+584del
ENST00000507118.5:c.-170+1572_-170+1581del (SMAD5)	ENSP00000425749.1:n.-170+1572_-170+1581del
ENST00000509297.5:c.-245+575_-245+584del (SMAD5)	ENSP00000426696.1:n.-245+575_-245+584del
ENST00000509962.5:n.250+1061_250+1070del (SMAD5)
ENST00000511116.5:c.-329+1572_-329+1581del (SMAD5)	ENSP00000424279.1:n.-329+1572_-329+1581del
ENST00000514777.1:n.59+1572_59+1581del (SMAD5)
ENST00000515005.1:c.-245+1061_-245+1070del (SMAD5)	ENSP00000427330.1:n.-245+1061_-245+1070del
ENST00000545279.5:c.-245+1572_-245+1581del (SMAD5)	ENSP00000441954.2:n.-245+1572_-245+1581del
ENST00000545620.5:c.-170+1572_-170+1581del (SMAD5)	ENSP00000446474.2:n.-170+1572_-170+1581del
NM_001001419.2:c.-329+1572_-329+1581del (SMAD5)	NP_001001419.1:n.-329+1572_-329+1581del
NM_001001420.2:c.-170+1572_-170+1581del (SMAD5)	NP_001001420.1:n.-170+1572_-170+1581del
NM_005903.6:c.-245+1572_-245+1581del (SMAD5)	NP_005894.3:n.-245+1572_-245+1581del
NR_026763.1:n.348_357del (SMAD5-AS1)
XM_017009470.2:c.-329+1061_-329+1070del (SMAD5)	XP_016864959.1:n.-329+1061_-329+1070del
XM_024446046.1:c.-245+1061_-245+1070del (SMAD5)	XP_024301814.1:n.-245+1061_-245+1070del
XM_024446047.1:c.-245+575_-245+584del (SMAD5)	XP_024301815.1:n.-245+575_-245+584del
NM_005903.7:c.-245+1572_-245+1581del (SMAD5) MANE Select	NP_005894.3:n.-245+1572_-245+1581del
NM_001001419.3:c.-329+1572_-329+1581del (SMAD5)	NP_001001419.1:n.-329+1572_-329+1581del
NM_001001420.3:c.-170+1572_-170+1581del (SMAD5)	NP_001001420.1:n.-170+1572_-170+1581del