Linked Data
ClinVar Variation Id:
2642778
dbSNP Id:
rs771500892
ExAC:
12:21958188 A / ATTT
gnomAD v2:
12-21958188-A-ATTT
gnomAD v3:
12-21805254-A-ATTT
gnomAD v4:
12-21805254-A-ATTT
MyVariant Identifiers:
chr12:g.21958188_21958189insTTT (hg19)
chr12:g.21805254_21805255insTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21805254_21805255insTTT , CM000674.2:g.21805254_21805255insTTT | GRCh38 |
| NC_000012.11:g.21958188_21958189insTTT , CM000674.1:g.21958188_21958189insTTT | GRCh37 |
| NC_000012.10:g.21849455_21849456insTTT | NCBI36 |
| NG_012819.1:g.136440_136441insAAA , LRG_377:g.136440_136441insAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.4569_4570insAAA | ENSP00000261201.4:p.Ile1523_Leu1524insLys | |
| ENST00000682426.1:n.2089+743_2089+744insAAA | ||
| ENST00000682879.1:c.*3610+743_*3610+744insAAA | ENSP00000508210.1:n.*3610+743_*3610+744insAAA | |
| ENST00000683105.1:c.*536+743_*536+744insAAA | ENSP00000506801.1:n.*536+743_*536+744insAAA | |
| ENST00000683676.1:c.4212-6117_4212-6116insAAA | ENSP00000508167.1:n.4212-6117_4212-6116insAAA | |
| ENST00000683695.1:n.977+743_977+744insAAA | ||
| ENST00000684084.1:c.4461+743_4461+744insAAA | ENSP00000507859.1:n.4461+743_4461+744insAAA | |
| ENST00000261200.9:c.4512+743_4512+744insAAA MANE Select | ENSP00000261200.4:n.4512+743_4512+744insAAA | |
| ENST00000261201.9:c.4569_4570insAAA | ENSP00000261201.4:p.Ile1523_Leu1524insLys | |
| ENST00000261200.8:c.4512+743_4512+744insAAA | ENSP00000261200.4:n.4512+743_4512+744insAAA | |
| ENST00000261201.8:c.4569_4570insAAA | ENSP00000261201.4:p.Ile1523_Leu1524insLys | |
| ENST00000544039.5:c.3450_3451insAAA | ENSP00000440521.1:p.Ile1150_Leu1151insLys | |
| NM_005691.3:c.4569_4570insAAA | NP_005682.2:p.Ile1523_Leu1524insLys | |
| NM_020297.3:c.4512+743_4512+744insAAA | NP_064693.2:n.4512+743_4512+744insAAA | |
| XM_005253284.2:c.4512+743_4512+744insAAA | XP_005253341.1:n.4512+743_4512+744insAAA | |
| XM_005253286.2:c.4512+743_4512+744insAAA | XP_005253343.1:n.4512+743_4512+744insAAA | |
| XM_005253287.3:c.4569_4570insAAA | XP_005253344.1:p.Ile1523_Leu1524insLys | |
| XM_005253288.2:c.4512+743_4512+744insAAA | XP_005253345.1:n.4512+743_4512+744insAAA | |
| XM_005253289.2:c.4473+743_4473+744insAAA | XP_005253346.1:n.4473+743_4473+744insAAA | |
| XM_005253290.2:c.4371+743_4371+744insAAA | XP_005253347.1:n.4371+743_4371+744insAAA | |
| XM_006719025.2:c.4530_4531insAAA | XP_006719088.1:p.Ile1510_Leu1511insLys | |
| XM_011520545.1:c.4512+743_4512+744insAAA | XP_011518847.1:n.4512+743_4512+744insAAA | |
| XR_931420.1:n.632-21956_632-21955insTTT | ||
| XR_931421.1:n.632-21956_632-21955insTTT | ||
| XR_931422.1:n.306-21956_306-21955insTTT | ||
| XM_005253284.4:c.4512+743_4512+744insAAA | XP_005253341.1:n.4512+743_4512+744insAAA | |
| XM_005253286.4:c.4512+743_4512+744insAAA | XP_005253343.1:n.4512+743_4512+744insAAA | |
| XM_005253287.5:c.4569_4570insAAA | XP_005253344.1:p.Ile1523_Leu1524insLys | |
| XM_005253288.4:c.4512+743_4512+744insAAA | XP_005253345.1:n.4512+743_4512+744insAAA | |
| XM_005253289.4:c.4473+743_4473+744insAAA | XP_005253346.1:n.4473+743_4473+744insAAA | |
| XM_005253290.4:c.4371+743_4371+744insAAA | XP_005253347.1:n.4371+743_4371+744insAAA | |
| XM_006719025.4:c.4530_4531insAAA | XP_006719088.1:p.Ile1510_Leu1511insLys | |
| XM_011520545.3:c.4512+743_4512+744insAAA | XP_011518847.1:n.4512+743_4512+744insAAA | |
| XR_931420.3:n.632-21956_632-21955insTTT | ||
| XR_931422.2:n.318-21956_318-21955insTTT | ||
| NM_001377273.1:c.4512+743_4512+744insAAA | NP_001364202.1:n.4512+743_4512+744insAAA | |
| NM_001377274.1:c.3645+743_3645+744insAAA | NP_001364203.1:n.3645+743_3645+744insAAA | |
| NM_005691.4:c.4569_4570insAAA | NP_005682.2:p.Ile1523_Leu1524insLys | |
| NM_020297.4:c.4512+743_4512+744insAAA MANE Select | NP_064693.2:n.4512+743_4512+744insAAA |