Canonical Allele Identifier: CA1584823377
Gene: SMAD5 HGNC NCBI
SMAD5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1752810523

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136134590_136134591del , CM000667.2:g.136134590_136134591del GRCh38
NC_000005.9:g.135470279_135470280del , CM000667.1:g.135470279_135470280del GRCh37
NC_000005.8:g.135498178_135498179del NCBI36
NG_032037.1:g.6744_6745del

Transcript Alleles

HGVS Amino-acid Change
ENST00000509297.6:c.-245+631_-245+632del (SMAD5) ENSP00000426696.2:n.-245+631_-245+632del
ENST00000545279.6:c.-245+1628_-245+1629del (SMAD5) MANE Select ENSP00000441954.2:n.-245+1628_-245+1629del
ENST00000506223.1:c.-170+631_-170+632del (SMAD5) ENSP00000422954.1:n.-170+631_-170+632del
ENST00000507118.5:c.-170+1628_-170+1629del (SMAD5) ENSP00000425749.1:n.-170+1628_-170+1629del
ENST00000509297.5:c.-245+631_-245+632del (SMAD5) ENSP00000426696.1:n.-245+631_-245+632del
ENST00000509962.5:n.250+1117_250+1118del (SMAD5)
ENST00000511116.5:c.-329+1628_-329+1629del (SMAD5) ENSP00000424279.1:n.-329+1628_-329+1629del
ENST00000514777.1:n.59+1628_59+1629del (SMAD5)
ENST00000515005.1:c.-245+1117_-245+1118del (SMAD5) ENSP00000427330.1:n.-245+1117_-245+1118del
ENST00000545279.5:c.-245+1628_-245+1629del (SMAD5) ENSP00000441954.2:n.-245+1628_-245+1629del
ENST00000545620.5:c.-170+1628_-170+1629del (SMAD5) ENSP00000446474.2:n.-170+1628_-170+1629del
NM_001001419.2:c.-329+1628_-329+1629del (SMAD5) NP_001001419.1:n.-329+1628_-329+1629del
NM_001001420.2:c.-170+1628_-170+1629del (SMAD5) NP_001001420.1:n.-170+1628_-170+1629del
NM_005903.6:c.-245+1628_-245+1629del (SMAD5) NP_005894.3:n.-245+1628_-245+1629del
NR_026763.1:n.300_301del (SMAD5-AS1)
XM_017009470.2:c.-329+1117_-329+1118del (SMAD5) XP_016864959.1:n.-329+1117_-329+1118del
XM_024446046.1:c.-245+1117_-245+1118del (SMAD5) XP_024301814.1:n.-245+1117_-245+1118del
XM_024446047.1:c.-245+631_-245+632del (SMAD5) XP_024301815.1:n.-245+631_-245+632del
NM_005903.7:c.-245+1628_-245+1629del (SMAD5) MANE Select NP_005894.3:n.-245+1628_-245+1629del
NM_001001419.3:c.-329+1628_-329+1629del (SMAD5) NP_001001419.1:n.-329+1628_-329+1629del
NM_001001420.3:c.-170+1628_-170+1629del (SMAD5) NP_001001420.1:n.-170+1628_-170+1629del