Linked Data
dbSNP Id:
rs758830985
ExAC:
20:3893068 AATGTT / A
gnomAD v2:
20-3893068-AATGTT-A
gnomAD v4:
20-3912421-AATGTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3912424_3912428del , CM000682.2:g.3912424_3912428del | GRCh38 |
| NC_000020.10:g.3893071_3893075del , CM000682.1:g.3893071_3893075del | GRCh37 |
| NC_000020.9:g.3841071_3841075del | NCBI36 |
| NG_008131.3:g.28586_28590del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.906-34_906-30del MANE Select | ENSP00000477429.2:n.906-34_906-30del | |
| ENST00000316562.9:c.1236-34_1236-30del | ENSP00000313377.4:n.1236-34_1236-30del | |
| ENST00000336066.8:c.*247-34_*247-30del | ENSP00000477229.2:n.*247-34_*247-30del | |
| ENST00000610179.6:c.906-34_906-30del | ENSP00000477429.2:n.906-34_906-30del | |
| ENST00000643504.2:c.*536-34_*536-30del | ENSP00000495157.2:n.*536-34_*536-30del | |
| ENST00000646394.1:c.733-34_733-30del | ||
| ENST00000316562.8:c.1236-34_1236-30del | ENSP00000313377.4:n.1236-34_1236-30del | |
| ENST00000336066.7:c.*247-34_*247-30del | ENSP00000477229.1:n.*247-34_*247-30del | |
| ENST00000464452.1:n.471-34_471-30del | ||
| ENST00000495692.5:c.-73-34_-73-30del | ENSP00000476745.1:n.-73-34_-73-30del | |
| ENST00000497424.5:c.363-34_363-30del | ENSP00000417609.1:n.363-34_363-30del | |
| ENST00000610179.5:c.867-34_867-30del | ENSP00000477429.1:n.867-34_867-30del | |
| ENST00000621507.1:c.363-34_363-30del | ENSP00000481523.1:n.363-34_363-30del | |
| NM_024960.4:c.363-34_363-30del | NP_079236.3:n.363-34_363-30del | |
| NM_153638.2:c.1236-34_1236-30del | NP_705902.2:n.1236-34_1236-30del | |
| NM_153640.2:c.363-34_363-30del | NP_705904.1:n.363-34_363-30del | |
| XM_005260835.2:c.621-34_621-30del | XP_005260892.1:n.621-34_621-30del | |
| XM_005260836.3:c.363-34_363-30del | XP_005260893.3:n.363-34_363-30del | |
| XM_006723631.1:c.363-34_363-30del | XP_006723694.1:n.363-34_363-30del | |
| XM_011529364.1:c.1235+1594_1235+1598del | XP_011527666.1:n.1235+1594_1235+1598del | |
| NM_001324191.1:c.363-34_363-30del | NP_001311120.1:n.363-34_363-30del | |
| NM_001324193.1:c.-73-34_-73-30del | NP_001311122.1:n.-73-34_-73-30del | |
| NM_024960.5:c.363-34_363-30del | NP_079236.3:n.363-34_363-30del | |
| NM_153638.3:c.1236-34_1236-30del | NP_705902.2:n.1236-34_1236-30del | |
| NM_153640.3:c.363-34_363-30del | NP_705904.1:n.363-34_363-30del | |
| NR_136715.1:n.1260-34_1260-30del | ||
| XM_005260835.3:c.621-34_621-30del | XP_005260892.1:n.621-34_621-30del | |
| XM_005260836.4:c.363-34_363-30del | XP_005260893.3:n.363-34_363-30del | |
| XM_011529364.3:c.1235+1594_1235+1598del | XP_011527666.1:n.1235+1594_1235+1598del | |
| XM_017028077.2:c.-73-34_-73-30del | XP_016883566.1:n.-73-34_-73-30del | |
| XM_017028078.2:c.-73-34_-73-30del | XP_016883567.1:n.-73-34_-73-30del | |
| XM_017028079.2:c.-73-34_-73-30del | XP_016883568.1:n.-73-34_-73-30del | |
| XM_024452002.1:c.-73-34_-73-30del | XP_024307770.1:n.-73-34_-73-30del | |
| XR_002958533.1:n.2024-34_2024-30del | ||
| NM_001324191.2:c.363-34_363-30del | NP_001311120.1:n.363-34_363-30del | |
| NM_001324193.2:c.-73-34_-73-30del | NP_001311122.1:n.-73-34_-73-30del | |
| NM_024960.6:c.363-34_363-30del | NP_079236.3:n.363-34_363-30del | |
| NR_136715.2:n.807-34_807-30del | ||
| NM_001386393.1:c.906-34_906-30del MANE Select | NP_001373322.1:n.906-34_906-30del | |
| NM_153638.4:c.1236-34_1236-30del | NP_705902.2:n.1236-34_1236-30del | |
| NM_153640.4:c.363-34_363-30del | NP_705904.1:n.363-34_363-30del |