Linked Data
ClinVar Variation Id:
430814
ClinVar RCV Id:
RCV000578145
dbSNP Id:
rs1555185301
PubMed:
PMID:29255178
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49024810_49024811insA , CM000674.2:g.49024810_49024811insA | GRCh38 |
| NC_000012.11:g.49418593_49418594insA , CM000674.1:g.49418593_49418594insA | GRCh37 |
| NC_000012.10:g.47704860_47704861insA | NCBI36 |
| NG_027827.1:g.35514_35515insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681974.1:n.592_593insT | ||
| ENST00000683543.2:c.15920_15921insT | ENSP00000506726.1:p.Leu5308ThrfsTer? | |
| ENST00000683863.1:n.1635_1636insT | ||
| ENST00000684428.1:c.455_456insT | ENSP00000507433.1:p.Leu153ThrfsTer? | |
| ENST00000684755.1:n.455_456insT | ||
| ENST00000685024.1:c.1045_1046insT | ||
| ENST00000685166.1:c.15929_15930insT | ENSP00000509386.1:p.Leu5311ThrfsTer? | |
| ENST00000688411.1:c.397_398insT | ENSP00000510146.1:n.397_398insT | |
| ENST00000691463.1:c.1306_1307insT | ENSP00000510624.1:n.1306_1307insT | |
| ENST00000692637.1:c.15917_15918insT | ENSP00000509666.1:p.Leu5307ThrfsTer? | |
| ENST00000301067.12:c.15920_15921insT MANE Select | ENSP00000301067.7:p.Leu5308ThrfsTer? | |
| ENST00000301067.11:c.15920_15921insT | ENSP00000301067.7:p.Leu5308ThrfsTer? | |
| NM_003482.3:c.15920_15921insT | NP_003473.3:p.Leu5308ThrfsTer? | |
| XM_005269162.3:c.15920_15921insT | XP_005269219.1:p.Leu5308ThrfsTer? | |
| XM_006719614.2:c.15929_15930insT | XP_006719677.1:p.Leu5311ThrfsTer? | |
| XM_006719616.2:c.15917_15918insT | XP_006719679.1:p.Leu5307ThrfsTer? | |
| XM_011538770.1:c.15929_15930insT | XP_011537072.1:p.Leu5311ThrfsTer? | |
| XM_011538771.1:c.15926_15927insT | XP_011537073.1:p.Leu5310ThrfsTer? | |
| XM_011538772.1:c.15920_15921insT | XP_011537074.1:p.Leu5308ThrfsTer? | |
| XM_011538773.1:c.15917_15918insT | XP_011537075.1:p.Leu5307ThrfsTer? | |
| XM_011538774.1:c.15908_15909insT | XP_011537076.1:p.Leu5304ThrfsTer? | |
| XM_011538775.1:c.15863_15864insT | XP_011537077.1:p.Leu5289ThrfsTer? | |
| XM_011538776.1:c.15836_15837insT | XP_011537078.1:p.Leu5280ThrfsTer? | |
| XR_944740.1:n.17108_17109insT | ||
| XM_005269162.4:c.15920_15921insT | XP_005269219.1:p.Leu5308ThrfsTer? | |
| XM_006719614.4:c.15929_15930insT | XP_006719677.1:p.Leu5311ThrfsTer? | |
| XM_006719616.3:c.15917_15918insT | XP_006719679.1:p.Leu5307ThrfsTer? | |
| XM_011538770.2:c.15929_15930insT | XP_011537072.1:p.Leu5311ThrfsTer? | |
| XM_011538771.2:c.15926_15927insT | XP_011537073.1:p.Leu5310ThrfsTer? | |
| XM_011538772.2:c.15920_15921insT | XP_011537074.1:p.Leu5308ThrfsTer? | |
| XM_011538773.2:c.15917_15918insT | XP_011537075.1:p.Leu5307ThrfsTer? | |
| XM_011538774.2:c.15908_15909insT | XP_011537076.1:p.Leu5304ThrfsTer? | |
| XM_011538776.2:c.15836_15837insT | XP_011537078.1:p.Leu5280ThrfsTer? | |
| XR_001748874.1:n.16097_16098insT | ||
| NM_003482.4:c.15920_15921insT MANE Select | NP_003473.3:p.Leu5308ThrfsTer? |