Linked Data
dbSNP Id:
rs1482931762
MyVariant Identifiers:
chr20:g.3893026_3893027insTTGGG (hg19)
chr20:g.3912379_3912380insTTGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3912380_3912384dup , CM000682.2:g.3912380_3912384dup | GRCh38 |
| NC_000020.10:g.3893027_3893031dup , CM000682.1:g.3893027_3893031dup | GRCh37 |
| NC_000020.9:g.3841027_3841031dup | NCBI36 |
| NG_008131.3:g.28542_28546dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610179.7:c.906-78_906-74dup MANE Select | ENSP00000477429.2:n.906-78_906-74dup | |
| ENST00000316562.9:c.1236-78_1236-74dup | ENSP00000313377.4:n.1236-78_1236-74dup | |
| ENST00000336066.8:c.*247-78_*247-74dup | ENSP00000477229.2:n.*247-78_*247-74dup | |
| ENST00000610179.6:c.906-78_906-74dup | ENSP00000477429.2:n.906-78_906-74dup | |
| ENST00000643504.2:c.*536-78_*536-74dup | ENSP00000495157.2:n.*536-78_*536-74dup | |
| ENST00000646394.1:c.733-78_733-74dup | ||
| ENST00000316562.8:c.1236-78_1236-74dup | ENSP00000313377.4:n.1236-78_1236-74dup | |
| ENST00000336066.7:c.*247-78_*247-74dup | ENSP00000477229.1:n.*247-78_*247-74dup | |
| ENST00000464452.1:n.471-78_471-74dup | ||
| ENST00000495692.5:c.-73-78_-73-74dup | ENSP00000476745.1:n.-73-78_-73-74dup | |
| ENST00000497424.5:c.363-78_363-74dup | ENSP00000417609.1:n.363-78_363-74dup | |
| ENST00000610179.5:c.867-78_867-74dup | ENSP00000477429.1:n.867-78_867-74dup | |
| ENST00000621507.1:c.363-78_363-74dup | ENSP00000481523.1:n.363-78_363-74dup | |
| NM_024960.4:c.363-78_363-74dup | NP_079236.3:n.363-78_363-74dup | |
| NM_153638.2:c.1236-78_1236-74dup | NP_705902.2:n.1236-78_1236-74dup | |
| NM_153640.2:c.363-78_363-74dup | NP_705904.1:n.363-78_363-74dup | |
| XM_005260835.2:c.621-78_621-74dup | XP_005260892.1:n.621-78_621-74dup | |
| XM_005260836.3:c.363-78_363-74dup | XP_005260893.3:n.363-78_363-74dup | |
| XM_006723631.1:c.363-78_363-74dup | XP_006723694.1:n.363-78_363-74dup | |
| XM_011529364.1:c.1235+1550_1235+1554dup | XP_011527666.1:n.1235+1550_1235+1554dup | |
| NM_001324191.1:c.363-78_363-74dup | NP_001311120.1:n.363-78_363-74dup | |
| NM_001324193.1:c.-73-78_-73-74dup | NP_001311122.1:n.-73-78_-73-74dup | |
| NM_024960.5:c.363-78_363-74dup | NP_079236.3:n.363-78_363-74dup | |
| NM_153638.3:c.1236-78_1236-74dup | NP_705902.2:n.1236-78_1236-74dup | |
| NM_153640.3:c.363-78_363-74dup | NP_705904.1:n.363-78_363-74dup | |
| NR_136715.1:n.1260-78_1260-74dup | ||
| XM_005260835.3:c.621-78_621-74dup | XP_005260892.1:n.621-78_621-74dup | |
| XM_005260836.4:c.363-78_363-74dup | XP_005260893.3:n.363-78_363-74dup | |
| XM_011529364.3:c.1235+1550_1235+1554dup | XP_011527666.1:n.1235+1550_1235+1554dup | |
| XM_017028077.2:c.-73-78_-73-74dup | XP_016883566.1:n.-73-78_-73-74dup | |
| XM_017028078.2:c.-73-78_-73-74dup | XP_016883567.1:n.-73-78_-73-74dup | |
| XM_017028079.2:c.-73-78_-73-74dup | XP_016883568.1:n.-73-78_-73-74dup | |
| XM_024452002.1:c.-73-78_-73-74dup | XP_024307770.1:n.-73-78_-73-74dup | |
| XR_002958533.1:n.2024-78_2024-74dup | ||
| NM_001324191.2:c.363-78_363-74dup | NP_001311120.1:n.363-78_363-74dup | |
| NM_001324193.2:c.-73-78_-73-74dup | NP_001311122.1:n.-73-78_-73-74dup | |
| NM_024960.6:c.363-78_363-74dup | NP_079236.3:n.363-78_363-74dup | |
| NR_136715.2:n.807-78_807-74dup | ||
| NM_001386393.1:c.906-78_906-74dup MANE Select | NP_001373322.1:n.906-78_906-74dup | |
| NM_153638.4:c.1236-78_1236-74dup | NP_705902.2:n.1236-78_1236-74dup | |
| NM_153640.4:c.363-78_363-74dup | NP_705904.1:n.363-78_363-74dup |