Linked Data
dbSNP Id:
rs1304811811
gnomAD v2:
8-23049346-G-GT
gnomAD v3:
8-23191833-G-GT
gnomAD v4:
8-23191833-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191833_23191834insT , CM000670.2:g.23191833_23191834insT | GRCh38 |
| NC_000008.10:g.23049346_23049347insT , CM000670.1:g.23049346_23049347insT | GRCh37 |
| NC_000008.9:g.23105291_23105292insT | NCBI36 |
| NG_032107.1:g.38334_38335insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1267_1268insA MANE Select | ENSP00000221132.3:p.Ala423AspfsTer? | |
| ENST00000221132.7:c.1267_1268insA | ENSP00000221132.3:p.Ala423AspfsTer? | |
| ENST00000519862.1:n.322_323insA | ||
| ENST00000613472.1:c.793_794insA | ENSP00000480778.1:p.Ala265AspfsTer? | |
| NM_003844.3:c.1267_1268insA | NP_003835.3:p.Ala423AspfsTer? | |
| NM_003844.4:c.1267_1268insA MANE Select | NP_003835.3:p.Ala423AspfsTer? |