Linked Data
ClinVar Variation Id:
92347
dbSNP Id:
rs398123122
MyVariant Identifiers:
chr5:g.112175764dup (hg19)
chr5:g.112175764dupT (hg19)
chr5:g.112840067dupT (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112840067dup , CM000667.2:g.112840067dup | GRCh38 |
| NC_000005.9:g.112175764dup , CM000667.1:g.112175764dup | GRCh37 |
| NC_000005.8:g.112203663dup | NCBI36 |
| NG_008481.4:g.152547dup , LRG_130:g.152547dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504915.3:c.4527dup | ENSP00000473355.2:p.Ala1510CysfsTer22 | |
| ENST00000505350.2:c.*4479dup | ENSP00000481752.1:n.*4479dup | |
| ENST00000507379.6:c.4419dup | ENSP00000423224.2:p.Ala1474CysfsTer22 | |
| ENST00000509732.6:c.4473dup | ENSP00000426541.2:p.Ala1492CysfsTer22 | |
| ENST00000512211.7:c.4473dup | ENSP00000423828.3:p.Ala1492CysfsTer22 | |
| ENST00000257430.9:c.4473dup MANE Select | ENSP00000257430.4:p.Ala1492CysfsTer22 | |
| ENST00000257430.8:c.4473dup | ENSP00000257430.4:p.Ala1492CysfsTer22 | |
| ENST00000508376.6:c.4473dup | ENSP00000427089.2:p.Ala1492CysfsTer22 | |
| ENST00000508624.5:c.*3795dup | ENSP00000424265.1:n.*3795dup | |
| ENST00000520401.1:c.230+11095dup | ||
| NM_000038.5:c.4473dup | NP_000029.2:p.Ala1492CysfsTer22 | |
| NM_001127510.2:c.4473dup | NP_001120982.1:p.Ala1492CysfsTer22 | |
| NM_001127511.2:c.4419dup | NP_001120983.2:p.Ala1474CysfsTer22 | |
| NM_001354895.1:c.4473dup | NP_001341824.1:p.Ala1492CysfsTer22 | |
| NM_001354896.1:c.4527dup | NP_001341825.1:p.Ala1510CysfsTer22 | |
| NM_001354897.1:c.4503dup | NP_001341826.1:p.Ala1502CysfsTer22 | |
| NM_001354898.1:c.4398dup | NP_001341827.1:p.Ala1467CysfsTer22 | |
| NM_001354899.1:c.4389dup | NP_001341828.1:p.Ala1464CysfsTer22 | |
| NM_001354900.1:c.4350dup | NP_001341829.1:p.Ala1451CysfsTer22 | |
| NM_001354901.1:c.4296dup | NP_001341830.1:p.Ala1433CysfsTer22 | |
| NM_001354902.1:c.4200dup | NP_001341831.1:p.Ala1401CysfsTer22 | |
| NM_001354903.1:c.4170dup | NP_001341832.1:p.Ala1391CysfsTer22 | |
| NM_001354904.1:c.4095dup | NP_001341833.1:p.Ala1366CysfsTer22 | |
| NM_001354905.1:c.3993dup | NP_001341834.1:p.Ala1332CysfsTer22 | |
| NM_001354906.1:c.3624dup | NP_001341835.1:p.Ala1209CysfsTer22 | |
| NM_000038.6:c.4473dup MANE Select | NP_000029.2:p.Ala1492CysfsTer22 | |
| NM_001127510.3:c.4473dup | NP_001120982.1:p.Ala1492CysfsTer22 | |
| NM_001127511.3:c.4419dup | NP_001120983.2:p.Ala1474CysfsTer22 | |
| NM_001354895.2:c.4473dup | NP_001341824.1:p.Ala1492CysfsTer22 | |
| NM_001354896.2:c.4527dup | NP_001341825.1:p.Ala1510CysfsTer22 | |
| NM_001354897.2:c.4503dup | NP_001341826.1:p.Ala1502CysfsTer22 | |
| NM_001354898.2:c.4398dup | NP_001341827.1:p.Ala1467CysfsTer22 | |
| NM_001354899.2:c.4389dup | NP_001341828.1:p.Ala1464CysfsTer22 | |
| NM_001354900.2:c.4350dup | NP_001341829.1:p.Ala1451CysfsTer22 | |
| NM_001354901.2:c.4296dup | NP_001341830.1:p.Ala1433CysfsTer22 | |
| NM_001354902.2:c.4200dup | NP_001341831.1:p.Ala1401CysfsTer22 | |
| NM_001354903.2:c.4170dup | NP_001341832.1:p.Ala1391CysfsTer22 | |
| NM_001354904.2:c.4095dup | NP_001341833.1:p.Ala1366CysfsTer22 | |
| NM_001354905.2:c.3993dup | NP_001341834.1:p.Ala1332CysfsTer22 | |
| NM_001354906.2:c.3624dup | NP_001341835.1:p.Ala1209CysfsTer22 |