Linked Data
ClinVar Variation Id:
1631019
ClinVar RCV Id:
RCV002127997
dbSNP Id:
rs746678905
ExAC:
12:21958263 AAAG / A
gnomAD v2:
12-21958263-AAAG-A
gnomAD v3:
12-21805329-AAAG-A
gnomAD v4:
12-21805329-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21805334_21805336del , CM000674.2:g.21805334_21805336del | GRCh38 |
| NC_000012.11:g.21958268_21958270del , CM000674.1:g.21958268_21958270del | GRCh37 |
| NC_000012.10:g.21849535_21849537del | NCBI36 |
| NG_012819.1:g.136363_136365del , LRG_377:g.136363_136365del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.4513-21_4513-19del | ENSP00000261201.4:n.4513-21_4513-19del | |
| ENST00000682426.1:n.2089+666_2089+668del | ||
| ENST00000682879.1:c.*3610+666_*3610+668del | ENSP00000508210.1:n.*3610+666_*3610+668del | |
| ENST00000683105.1:c.*536+666_*536+668del | ENSP00000506801.1:n.*536+666_*536+668del | |
| ENST00000683676.1:c.4212-6194_4212-6192del | ENSP00000508167.1:n.4212-6194_4212-6192del | |
| ENST00000683695.1:n.977+666_977+668del | ||
| ENST00000684084.1:c.4461+666_4461+668del | ENSP00000507859.1:n.4461+666_4461+668del | |
| ENST00000261200.9:c.4512+666_4512+668del MANE Select | ENSP00000261200.4:n.4512+666_4512+668del | |
| ENST00000261201.9:c.4513-21_4513-19del | ENSP00000261201.4:n.4513-21_4513-19del | |
| ENST00000261200.8:c.4512+666_4512+668del | ENSP00000261200.4:n.4512+666_4512+668del | |
| ENST00000261201.8:c.4513-21_4513-19del | ENSP00000261201.4:n.4513-21_4513-19del | |
| ENST00000544039.5:c.3394-21_3394-19del | ENSP00000440521.1:n.3394-21_3394-19del | |
| NM_005691.3:c.4513-21_4513-19del | NP_005682.2:n.4513-21_4513-19del | |
| NM_020297.3:c.4512+666_4512+668del | NP_064693.2:n.4512+666_4512+668del | |
| XM_005253284.2:c.4512+666_4512+668del | XP_005253341.1:n.4512+666_4512+668del | |
| XM_005253286.2:c.4512+666_4512+668del | XP_005253343.1:n.4512+666_4512+668del | |
| XM_005253287.3:c.4513-21_4513-19del | XP_005253344.1:n.4513-21_4513-19del | |
| XM_005253288.2:c.4512+666_4512+668del | XP_005253345.1:n.4512+666_4512+668del | |
| XM_005253289.2:c.4473+666_4473+668del | XP_005253346.1:n.4473+666_4473+668del | |
| XM_005253290.2:c.4371+666_4371+668del | XP_005253347.1:n.4371+666_4371+668del | |
| XM_006719025.2:c.4474-21_4474-19del | XP_006719088.1:n.4474-21_4474-19del | |
| XM_011520545.1:c.4512+666_4512+668del | XP_011518847.1:n.4512+666_4512+668del | |
| XR_931420.1:n.632-21876_632-21874del | ||
| XR_931421.1:n.632-21876_632-21874del | ||
| XR_931422.1:n.306-21876_306-21874del | ||
| XM_005253284.4:c.4512+666_4512+668del | XP_005253341.1:n.4512+666_4512+668del | |
| XM_005253286.4:c.4512+666_4512+668del | XP_005253343.1:n.4512+666_4512+668del | |
| XM_005253287.5:c.4513-21_4513-19del | XP_005253344.1:n.4513-21_4513-19del | |
| XM_005253288.4:c.4512+666_4512+668del | XP_005253345.1:n.4512+666_4512+668del | |
| XM_005253289.4:c.4473+666_4473+668del | XP_005253346.1:n.4473+666_4473+668del | |
| XM_005253290.4:c.4371+666_4371+668del | XP_005253347.1:n.4371+666_4371+668del | |
| XM_006719025.4:c.4474-21_4474-19del | XP_006719088.1:n.4474-21_4474-19del | |
| XM_011520545.3:c.4512+666_4512+668del | XP_011518847.1:n.4512+666_4512+668del | |
| XR_931420.3:n.632-21876_632-21874del | ||
| XR_931422.2:n.318-21876_318-21874del | ||
| NM_001377273.1:c.4512+666_4512+668del | NP_001364202.1:n.4512+666_4512+668del | |
| NM_001377274.1:c.3645+666_3645+668del | NP_001364203.1:n.3645+666_3645+668del | |
| NM_005691.4:c.4513-21_4513-19del | NP_005682.2:n.4513-21_4513-19del | |
| NM_020297.4:c.4512+666_4512+668del MANE Select | NP_064693.2:n.4512+666_4512+668del |