Linked Data
dbSNP Id:
rs570829260
gnomAD v2:
5-135470288-ATTCC-A
gnomAD v3:
5-136134599-ATTCC-A
gnomAD v4:
5-136134599-ATTCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136134602_136134605del , CM000667.2:g.136134602_136134605del | GRCh38 |
| NC_000005.9:g.135470291_135470294del , CM000667.1:g.135470291_135470294del | GRCh37 |
| NC_000005.8:g.135498190_135498193del | NCBI36 |
| NG_032037.1:g.6756_6759del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509297.6:c.-245+643_-245+646del (SMAD5) | ENSP00000426696.2:n.-245+643_-245+646del | |
| ENST00000545279.6:c.-245+1640_-245+1643del (SMAD5) MANE Select | ENSP00000441954.2:n.-245+1640_-245+1643del | |
| ENST00000506223.1:c.-170+643_-170+646del (SMAD5) | ENSP00000422954.1:n.-170+643_-170+646del | |
| ENST00000507118.5:c.-170+1640_-170+1643del (SMAD5) | ENSP00000425749.1:n.-170+1640_-170+1643del | |
| ENST00000509297.5:c.-245+643_-245+646del (SMAD5) | ENSP00000426696.1:n.-245+643_-245+646del | |
| ENST00000509962.5:n.250+1129_250+1132del (SMAD5) | ||
| ENST00000511116.5:c.-329+1640_-329+1643del (SMAD5) | ENSP00000424279.1:n.-329+1640_-329+1643del | |
| ENST00000514777.1:n.59+1640_59+1643del (SMAD5) | ||
| ENST00000515005.1:c.-245+1129_-245+1132del (SMAD5) | ENSP00000427330.1:n.-245+1129_-245+1132del | |
| ENST00000545279.5:c.-245+1640_-245+1643del (SMAD5) | ENSP00000441954.2:n.-245+1640_-245+1643del | |
| ENST00000545620.5:c.-170+1640_-170+1643del (SMAD5) | ENSP00000446474.2:n.-170+1640_-170+1643del | |
| NM_001001419.2:c.-329+1640_-329+1643del (SMAD5) | NP_001001419.1:n.-329+1640_-329+1643del | |
| NM_001001420.2:c.-170+1640_-170+1643del (SMAD5) | NP_001001420.1:n.-170+1640_-170+1643del | |
| NM_005903.6:c.-245+1640_-245+1643del (SMAD5) | NP_005894.3:n.-245+1640_-245+1643del | |
| NR_026763.1:n.288_291del (SMAD5-AS1) | ||
| XM_017009470.2:c.-329+1129_-329+1132del (SMAD5) | XP_016864959.1:n.-329+1129_-329+1132del | |
| XM_024446046.1:c.-245+1129_-245+1132del (SMAD5) | XP_024301814.1:n.-245+1129_-245+1132del | |
| XM_024446047.1:c.-245+643_-245+646del (SMAD5) | XP_024301815.1:n.-245+643_-245+646del | |
| NM_005903.7:c.-245+1640_-245+1643del (SMAD5) MANE Select | NP_005894.3:n.-245+1640_-245+1643del | |
| NM_001001419.3:c.-329+1640_-329+1643del (SMAD5) | NP_001001419.1:n.-329+1640_-329+1643del | |
| NM_001001420.3:c.-170+1640_-170+1643del (SMAD5) | NP_001001420.1:n.-170+1640_-170+1643del |