Linked Data
dbSNP Id:
rs757761135
gnomAD v2:
12-21997655-TTTTTATTA-T
gnomAD v3:
12-21844721-TTTTTATTA-T
gnomAD v4:
12-21844721-TTTTTATTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21844728_21844735del , CM000674.2:g.21844728_21844735del | GRCh38 |
| NC_000012.11:g.21997662_21997669del , CM000674.1:g.21997662_21997669del | GRCh37 |
| NC_000012.10:g.21888929_21888936del | NCBI36 |
| NG_012819.1:g.96966_96973del , LRG_377:g.96966_96973del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.3245+38_3245+45del | ENSP00000261201.4:n.3245+38_3245+45del | |
| ENST00000682068.1:c.3245+38_3245+45del | ENSP00000507226.1:n.3245+38_3245+45del | |
| ENST00000682426.1:n.822+38_822+45del | ||
| ENST00000682879.1:c.*2343+38_*2343+45del | ENSP00000508210.1:n.*2343+38_*2343+45del | |
| ENST00000683105.1:c.3245+38_3245+45del | ENSP00000506801.1:n.3245+38_3245+45del | |
| ENST00000683676.1:c.3245+38_3245+45del | ENSP00000508167.1:n.3245+38_3245+45del | |
| ENST00000683811.1:n.2746+38_2746+45del | ||
| ENST00000684084.1:c.3194+38_3194+45del | ENSP00000507859.1:n.3194+38_3194+45del | |
| ENST00000261200.9:c.3245+38_3245+45del MANE Select | ENSP00000261200.4:n.3245+38_3245+45del | |
| ENST00000261201.9:c.3245+38_3245+45del | ENSP00000261201.4:n.3245+38_3245+45del | |
| ENST00000261200.8:c.3245+38_3245+45del | ENSP00000261200.4:n.3245+38_3245+45del | |
| ENST00000261201.8:c.3245+38_3245+45del | ENSP00000261201.4:n.3245+38_3245+45del | |
| ENST00000544039.5:c.2126+38_2126+45del | ENSP00000440521.1:n.2126+38_2126+45del | |
| NM_005691.3:c.3245+38_3245+45del | NP_005682.2:n.3245+38_3245+45del | |
| NM_020297.3:c.3245+38_3245+45del | NP_064693.2:n.3245+38_3245+45del | |
| XM_005253284.2:c.3245+38_3245+45del | XP_005253341.1:n.3245+38_3245+45del | |
| XM_005253286.2:c.3245+38_3245+45del | XP_005253343.1:n.3245+38_3245+45del | |
| XM_005253287.3:c.3245+38_3245+45del | XP_005253344.1:n.3245+38_3245+45del | |
| XM_005253288.2:c.3245+38_3245+45del | XP_005253345.1:n.3245+38_3245+45del | |
| XM_005253289.2:c.3206+38_3206+45del | XP_005253346.1:n.3206+38_3206+45del | |
| XM_005253290.2:c.3104+38_3104+45del | XP_005253347.1:n.3104+38_3104+45del | |
| XM_006719025.2:c.3206+38_3206+45del | XP_006719088.1:n.3206+38_3206+45del | |
| XM_011520545.1:c.3245+38_3245+45del | XP_011518847.1:n.3245+38_3245+45del | |
| XM_005253284.4:c.3245+38_3245+45del | XP_005253341.1:n.3245+38_3245+45del | |
| XM_005253286.4:c.3245+38_3245+45del | XP_005253343.1:n.3245+38_3245+45del | |
| XM_005253287.5:c.3245+38_3245+45del | XP_005253344.1:n.3245+38_3245+45del | |
| XM_005253288.4:c.3245+38_3245+45del | XP_005253345.1:n.3245+38_3245+45del | |
| XM_005253289.4:c.3206+38_3206+45del | XP_005253346.1:n.3206+38_3206+45del | |
| XM_005253290.4:c.3104+38_3104+45del | XP_005253347.1:n.3104+38_3104+45del | |
| XM_006719025.4:c.3206+38_3206+45del | XP_006719088.1:n.3206+38_3206+45del | |
| XM_011520545.3:c.3245+38_3245+45del | XP_011518847.1:n.3245+38_3245+45del | |
| NM_001377273.1:c.3245+38_3245+45del | NP_001364202.1:n.3245+38_3245+45del | |
| NM_001377274.1:c.2378+38_2378+45del | NP_001364203.1:n.2378+38_2378+45del | |
| NM_005691.4:c.3245+38_3245+45del | NP_005682.2:n.3245+38_3245+45del | |
| NM_020297.4:c.3245+38_3245+45del MANE Select | NP_064693.2:n.3245+38_3245+45del |