Linked Data
dbSNP Id:
rs1243128057
gnomAD v2:
12-103259483-TG-T
gnomAD v3:
12-102865705-TG-T
gnomAD v4:
12-102865705-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102865706del , CM000674.2:g.102865706del | GRCh38 |
| NC_000012.11:g.103259484del , CM000674.1:g.103259484del | GRCh37 |
| NC_000012.10:g.101783614del | NCBI36 |
| NG_008690.1:g.56897del | |
| NG_008690.2:g.97705del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.509+890del MANE Select | ENSP00000448059.1:n.509+890del | |
| ENST00000307000.7:c.494+890del | ENSP00000303500.2:n.494+890del | |
| ENST00000549111.5:n.605+890del | ||
| ENST00000551988.5:n.531-10374del | ||
| ENST00000553106.5:c.509+890del | ENSP00000448059.1:n.509+890del | |
| NM_000277.1:c.509+890del | NP_000268.1:n.509+890del | |
| XM_011538422.1:c.509+890del | XP_011536724.1:n.509+890del | |
| NM_000277.2:c.509+890del | NP_000268.1:n.509+890del | |
| NM_001354304.1:c.509+890del | NP_001341233.1:n.509+890del | |
| XM_017019370.2:c.509+890del | XP_016874859.1:n.509+890del | |
| NM_000277.3:c.509+890del MANE Select | NP_000268.1:n.509+890del | |
| NM_001354304.2:c.509+890del | NP_001341233.1:n.509+890del |