Linked Data
gnomAD v3:
2-43887143-C-CAAAAAAAAAAAACAAAAAAAAAAAAA
gnomAD v4:
2-43887143-C-CAAAAAAAAAAAACAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887155_43887156insCAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.43887155_43887156insCAAAAAAAAAAAAAAAAAAAAAAAAA | GRCh38 |
| NC_000002.11:g.44114294_44114295insCAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.44114294_44114295insCAAAAAAAAAAAAAAAAAAAAAAAAA | GRCh37 |
| NC_000002.10:g.43967798_43967799insCAAAAAAAAAAAAAAAAAAAAAAAAA | NCBI36 |
| NG_008247.1:g.113862_113863insTTTTTTTTTTTTTGTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2408_2409insTTTTTTTTTTTTTGTTTTTTTTTTTT | ||
| ENST00000684454.1:n.9505_9506insTTTTTTTTTTTTTGTTTTTTTTTTTT | ||
| ENST00000260665.12:c.*1456_*1457insTTTTTTTTTTTTTGTTTTTTTTTTTT MANE Select | ENSP00000260665.7:n.*1456_*1457insTTTTTTTTTTTTTGTTTTTTTTTTTT | |
| ENST00000260665.11:c.*1456_*1457insTTTTTTTTTTTTTGTTTTTTTTTTTT | ENSP00000260665.7:n.*1456_*1457insTTTTTTTTTTTTTGTTTTTTTTTTTT | |
| NM_133259.3:c.*1456_*1457insTTTTTTTTTTTTTGTTTTTTTTTTTT | NP_573566.2:n.*1456_*1457insTTTTTTTTTTTTTGTTTTTTTTTTTT | |
| XR_002958896.1:n.5823_5824insTTTTTTTTTTTTTGTTTTTTTTTTTT | ||
| NM_133259.4:c.*1456_*1457insTTTTTTTTTTTTTGTTTTTTTTTTTT MANE Select | NP_573566.2:n.*1456_*1457insTTTTTTTTTTTTTGTTTTTTTTTTTT |