Linked Data
dbSNP Id:
rs2137885947
gnomAD v3:
12-10446193-TATCAGTTAGAGGTCATCTCCTATTTC-T
gnomAD v4:
12-10446193-TATCAGTTAGAGGTCATCTCCTATTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10446195_10446220del , CM000674.2:g.10446195_10446220del | GRCh38 |
| NC_000012.11:g.10598794_10598819del , CM000674.1:g.10598794_10598819del | GRCh37 |
| NC_000012.10:g.10490061_10490086del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359151.8:c.*332_*357del MANE Select | ENSP00000352064.3:n.*332_*357del | |
| ENST00000347831.9:c.*332_*357del | ENSP00000256965.7:n.*332_*357del | |
| ENST00000359151.7:c.*332_*357del | ENSP00000352064.3:n.*332_*357del | |
| ENST00000408006.7:c.*332_*357del | ENSP00000385304.3:n.*332_*357del | |
| ENST00000536188.5:c.685+349_685+374del | ENSP00000441432.1:n.685+349_685+374del | |
| ENST00000544822.2:c.*332_*357del | ENSP00000438038.1:n.*332_*357del | |
| NM_001304448.1:c.685+349_685+374del | NP_001291377.1:n.685+349_685+374del | |
| NM_002259.4:c.*332_*357del | NP_002250.1:n.*332_*357del | |
| NM_007328.3:c.*332_*357del | NP_015567.1:n.*332_*357del | |
| NM_213657.2:c.*332_*357del | NP_998822.1:n.*332_*357del | |
| NM_213658.2:c.*332_*357del | NP_998823.1:n.*332_*357del | |
| XM_024448973.1:c.685+349_685+374del | XP_024304741.1:n.685+349_685+374del | |
| NM_002259.5:c.*332_*357del MANE Select | NP_002250.2:n.*332_*357del | |
| NM_007328.4:c.*332_*357del | NP_015567.2:n.*332_*357del | |
| NM_213657.3:c.*332_*357del | NP_998822.2:n.*332_*357del | |
| NM_213658.3:c.*332_*357del | NP_998823.2:n.*332_*357del |