Linked Data
ClinVar Variation Id:
433656
dbSNP Id:
rs1554085382
MyVariant Identifiers:
chr5:g.112175192dup (hg19)
chr5:g.112175192_112175193insA (hg19)
chr5:g.112175191_112175192insA (hg19)
chr5:g.112839495dup (hg38)
PubMed:
PMID:9101302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839495dup , CM000667.2:g.112839495dup | GRCh38 |
| NC_000005.9:g.112175192dup , CM000667.1:g.112175192dup | GRCh37 |
| NC_000005.8:g.112203091dup | NCBI36 |
| NG_008481.4:g.151975dup , LRG_130:g.151975dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3566dup | ENSP00000484935.2:n.3566dup | |
| ENST00000504915.3:c.3955dup | ENSP00000473355.2:p.Thr1319AsnfsTer14 | |
| ENST00000505350.2:c.*3907dup | ENSP00000481752.1:n.*3907dup | |
| ENST00000507379.6:c.3847dup | ENSP00000423224.2:p.Thr1283AsnfsTer14 | |
| ENST00000509732.6:c.3901dup | ENSP00000426541.2:p.Thr1301AsnfsTer14 | |
| ENST00000512211.7:c.3901dup | ENSP00000423828.3:p.Thr1301AsnfsTer14 | |
| ENST00000257430.9:c.3901dup MANE Select | ENSP00000257430.4:p.Thr1301AsnfsTer14 | |
| ENST00000257430.8:c.3901dup | ENSP00000257430.4:p.Thr1301AsnfsTer14 | |
| ENST00000502371.2:c.2254dup | ||
| ENST00000508376.6:c.3901dup | ENSP00000427089.2:p.Thr1301AsnfsTer14 | |
| ENST00000508624.5:c.*3223dup | ENSP00000424265.1:n.*3223dup | |
| ENST00000512211.6:c.3901dup | ENSP00000423828.2:p.Thr1301AsnfsTer? | |
| ENST00000520401.1:c.230+10523dup | ||
| NM_000038.5:c.3901dup | NP_000029.2:p.Thr1301AsnfsTer14 | |
| NM_001127510.2:c.3901dup | NP_001120982.1:p.Thr1301AsnfsTer14 | |
| NM_001127511.2:c.3847dup | NP_001120983.2:p.Thr1283AsnfsTer14 | |
| NM_001354895.1:c.3901dup | NP_001341824.1:p.Thr1301AsnfsTer14 | |
| NM_001354896.1:c.3955dup | NP_001341825.1:p.Thr1319AsnfsTer14 | |
| NM_001354897.1:c.3931dup | NP_001341826.1:p.Thr1311AsnfsTer14 | |
| NM_001354898.1:c.3826dup | NP_001341827.1:p.Thr1276AsnfsTer14 | |
| NM_001354899.1:c.3817dup | NP_001341828.1:p.Thr1273AsnfsTer14 | |
| NM_001354900.1:c.3778dup | NP_001341829.1:p.Thr1260AsnfsTer14 | |
| NM_001354901.1:c.3724dup | NP_001341830.1:p.Thr1242AsnfsTer14 | |
| NM_001354902.1:c.3628dup | NP_001341831.1:p.Thr1210AsnfsTer14 | |
| NM_001354903.1:c.3598dup | NP_001341832.1:p.Thr1200AsnfsTer14 | |
| NM_001354904.1:c.3523dup | NP_001341833.1:p.Thr1175AsnfsTer14 | |
| NM_001354905.1:c.3421dup | NP_001341834.1:p.Thr1141AsnfsTer14 | |
| NM_001354906.1:c.3052dup | NP_001341835.1:p.Thr1018AsnfsTer14 | |
| NM_000038.6:c.3901dup MANE Select | NP_000029.2:p.Thr1301AsnfsTer14 | |
| NM_001127510.3:c.3901dup | NP_001120982.1:p.Thr1301AsnfsTer14 | |
| NM_001127511.3:c.3847dup | NP_001120983.2:p.Thr1283AsnfsTer14 | |
| NM_001354895.2:c.3901dup | NP_001341824.1:p.Thr1301AsnfsTer14 | |
| NM_001354896.2:c.3955dup | NP_001341825.1:p.Thr1319AsnfsTer14 | |
| NM_001354897.2:c.3931dup | NP_001341826.1:p.Thr1311AsnfsTer14 | |
| NM_001354898.2:c.3826dup | NP_001341827.1:p.Thr1276AsnfsTer14 | |
| NM_001354899.2:c.3817dup | NP_001341828.1:p.Thr1273AsnfsTer14 | |
| NM_001354900.2:c.3778dup | NP_001341829.1:p.Thr1260AsnfsTer14 | |
| NM_001354901.2:c.3724dup | NP_001341830.1:p.Thr1242AsnfsTer14 | |
| NM_001354902.2:c.3628dup | NP_001341831.1:p.Thr1210AsnfsTer14 | |
| NM_001354903.2:c.3598dup | NP_001341832.1:p.Thr1200AsnfsTer14 | |
| NM_001354904.2:c.3523dup | NP_001341833.1:p.Thr1175AsnfsTer14 | |
| NM_001354905.2:c.3421dup | NP_001341834.1:p.Thr1141AsnfsTer14 | |
| NM_001354906.2:c.3052dup | NP_001341835.1:p.Thr1018AsnfsTer14 |