Linked Data
dbSNP Id:
rs55842976
gnomAD v2:
12-103259725-TAA-T
gnomAD v3:
12-102865947-TAA-T
gnomAD v4:
12-102865947-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102865948_102865949del , CM000674.2:g.102865948_102865949del | GRCh38 |
| NC_000012.11:g.103259726_103259727del , CM000674.1:g.103259726_103259727del | GRCh37 |
| NC_000012.10:g.101783856_101783857del | NCBI36 |
| NG_008690.1:g.56654_56655del | |
| NG_008690.2:g.97462_97463del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.509+647_509+648del MANE Select | ENSP00000448059.1:n.509+647_509+648del | |
| ENST00000307000.7:c.494+647_494+648del | ENSP00000303500.2:n.494+647_494+648del | |
| ENST00000549111.5:n.605+647_605+648del | ||
| ENST00000551988.5:n.531-10617_531-10616del | ||
| ENST00000553106.5:c.509+647_509+648del | ENSP00000448059.1:n.509+647_509+648del | |
| NM_000277.1:c.509+647_509+648del | NP_000268.1:n.509+647_509+648del | |
| XM_011538422.1:c.509+647_509+648del | XP_011536724.1:n.509+647_509+648del | |
| NM_000277.2:c.509+647_509+648del | NP_000268.1:n.509+647_509+648del | |
| NM_001354304.1:c.509+647_509+648del | NP_001341233.1:n.509+647_509+648del | |
| XM_017019370.2:c.509+647_509+648del | XP_016874859.1:n.509+647_509+648del | |
| NM_000277.3:c.509+647_509+648del MANE Select | NP_000268.1:n.509+647_509+648del | |
| NM_001354304.2:c.509+647_509+648del | NP_001341233.1:n.509+647_509+648del |