Linked Data
ClinVar Variation Id:
56306
ClinVar RCV Id:
RCV000049718
dbSNP Id:
rs386833754
PubMed:
PMID:19777577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15570424_15570425insTG , CM000666.2:g.15570424_15570425insTG | GRCh38 |
| NC_000004.11:g.15572047_15572048insTG , CM000666.1:g.15572047_15572048insTG | GRCh37 |
| NC_000004.10:g.15181145_15181146insTG | NCBI36 |
| NG_013035.1:g.105559_105560insTG , LRG_697:g.105559_105560insTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389652.11:c.3537_3538insTG | ENSP00000374303.8:p.His1180CysfsTer13 | |
| ENST00000424120.6:c.3522_3523insTG MANE Select | ENSP00000403465.1:p.His1175CysfsTer13 | |
| ENST00000503292.6:c.3522_3523insTG | ENSP00000421809.1:p.His1175CysfsTer13 | |
| ENST00000506643.5:c.3375_3376insTG | ENSP00000422931.2:p.His1126CysfsTer13 | |
| ENST00000634028.2:c.3375_3376insTG | ENSP00000488669.2:p.His1126CysfsTer13 | |
| ENST00000650860.2:c.*528_*529insTG | ENSP00000498775.1:n.*528_*529insTG | |
| ENST00000674945.1:c.3375_3376insTG | ENSP00000502333.1:p.His1126CysfsTer13 | |
| ENST00000675619.1:n.4333_4334insTG | ||
| ENST00000675768.1:n.742_743insTG | ||
| ENST00000676337.1:c.*528_*529insTG | ENSP00000501728.1:n.*528_*529insTG | |
| ENST00000680586.1:n.4181_4182insTG | ||
| ENST00000389652.9:c.2999_3000insTG | ||
| ENST00000424120.5:c.3522_3523insTG | ENSP00000403465.1:p.His1175CysfsTer13 | |
| ENST00000503292.5:c.3522_3523insTG | ENSP00000421809.1:p.His1175CysfsTer13 | |
| ENST00000506643.4:c.1850_1851insTG | ||
| ENST00000634028.1:c.3505_3506insTG | ENSP00000488669.1:n.3505_3506insTG | |
| NM_001080522.2:c.3522_3523insTG , LRG_697t1:c.3522_3523insTG | NP_001073991.2:p.His1175CysfsTer13 | |
| XM_005248177.1:c.3522_3523insTG | XP_005248234.1:p.His1175CysfsTer13 | |
| XM_011513869.1:c.3522_3523insTG | XP_011512171.1:p.His1175CysfsTer13 | |
| XM_011513870.1:c.3522_3523insTG | XP_011512172.1:p.His1175CysfsTer13 | |
| XM_011513871.1:c.3375_3376insTG | XP_011512173.1:p.His1126CysfsTer13 | |
| XM_017008482.1:c.3375_3376insTG | XP_016863971.1:p.His1126CysfsTer13 | |
| XR_001741296.1:n.3767_3768insTG | ||
| NM_001378615.1:c.3522_3523insTG MANE Select | NP_001365544.1:p.His1175CysfsTer13 | |
| NM_001378617.1:c.3375_3376insTG | NP_001365546.1:p.His1126CysfsTer13 |