Linked Data
ClinVar Variation Id:
407370
dbSNP Id:
rs1333329860
gnomAD v2:
2-128186342-T-TG
gnomAD v4:
2-127428766-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428772dup , CM000664.2:g.127428772dup | GRCh38 |
| NC_000002.11:g.128186348dup , CM000664.1:g.128186348dup | GRCh37 |
| NC_000002.10:g.127902818dup | NCBI36 |
| NG_016323.1:g.15353dup , LRG_599:g.15353dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.1212dup MANE Select | ENSP00000234071.4:p.Pro405AlafsTer20 | |
| ENST00000234071.7:c.1212dup | ENSP00000234071.3:p.Pro405AlafsTer20 | |
| ENST00000402125.2:c.536dup | ||
| ENST00000409048.1:c.1314dup | ENSP00000386679.1:p.Pro439AlafsTer20 | |
| NM_000312.3:c.1212dup , LRG_599t1:c.1212dup | NP_000303.1:p.Pro405AlafsTer20 | |
| XM_005263715.3:c.1395dup | XP_005263772.1:p.Pro466AlafsTer20 | |
| XM_005263716.3:c.1377dup | XP_005263773.1:p.Pro460AlafsTer20 | |
| XM_005263717.3:c.1275dup | XP_005263774.1:p.Pro426AlafsTer20 | |
| XR_923313.1:n.1332-503dup | ||
| XM_005263717.4:c.1275dup | XP_005263774.1:p.Pro426AlafsTer20 | |
| XM_017004505.1:c.1455dup | XP_016859994.1:p.Pro486AlafsTer20 | |
| XM_024453002.1:c.1557dup | XP_024308770.1:p.Pro520AlafsTer20 | |
| XM_024453003.1:c.1497dup | XP_024308771.1:p.Pro500AlafsTer20 | |
| XM_024453004.1:c.1395dup | XP_024308772.1:p.Pro466AlafsTer20 | |
| XM_024453005.1:c.1377dup | XP_024308773.1:p.Pro460AlafsTer20 | |
| XM_024453006.1:c.1314dup | XP_024308774.1:p.Pro439AlafsTer20 | |
| XR_001739705.1:n.3607-503dup | ||
| XR_923313.2:n.4043-503dup | ||
| NM_000312.4:c.1212dup MANE Select | NP_000303.1:p.Pro405AlafsTer20 | |
| NM_001375602.1:c.1395dup | NP_001362531.1:p.Pro466AlafsTer20 | |
| NM_001375603.1:c.1377dup | NP_001362532.1:p.Pro460AlafsTer20 | |
| NM_001375604.1:c.1275dup | NP_001362533.1:p.Pro426AlafsTer20 | |
| NM_001375605.1:c.1314dup | NP_001362534.1:p.Pro439AlafsTer20 | |
| NM_001375606.1:c.1380dup | NP_001362535.1:p.Pro461AlafsTer20 | |
| NM_001375607.1:c.1398dup | NP_001362536.1:p.Pro467AlafsTer20 | |
| NM_001375608.1:c.1155dup | NP_001362537.1:p.Pro386AlafsTer20 | |
| NM_001375609.1:c.1188dup | NP_001362538.1:p.Pro397AlafsTer20 | |
| NM_001375610.1:c.1206dup | NP_001362539.1:p.Pro403AlafsTer20 | |
| NM_001375611.1:c.1212dup | NP_001362540.1:p.Pro405AlafsTer20 | |
| NM_001375613.1:c.1212dup | NP_001362542.1:p.Pro405AlafsTer20 |