UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5081782_5081783insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG , CM000671.2:g.5081782_5081783insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG | GRCh38 |
| NC_000009.11:g.5081782_5081783insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG , CM000671.1:g.5081782_5081783insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG | GRCh37 |
| NC_000009.10:g.5071782_5071783insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG | NCBI36 |
| NG_009904.1:g.101538_101539insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG , LRG_612:g.101538_101539insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG | |
| NG_046969.1:g.108930_108931insTAGGGCACCTATCCACCTATCCTCAGAAAATGACATGTTACCAAATATGAGGATAGGTGCACCAGAAAACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381652.4:c.2492_2493insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) MANE Select | ENSP00000371067.4:p.Ser833LeufsTer19 | |
| ENST00000381652.3:c.2492_2493insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | ENSP00000371067.3:p.Ser833LeufsTer19 | |
| NM_004972.3:c.2492_2493insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG , LRG_612t1:c.2492_2493insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_004963.1:p.Ser833LeufsTer19 | |
| XM_011517701.1:c.377-66437_377-66436insTAGGGCACCTATCCACCTATCCTCAGAAAATGACATGTTACCAAATATGAGGATAGGTGCACCAGAAAACC (INSL6) | XP_011516003.1:n.377-66437_377-66436insTAGGGCACCTATCCACCTATCC... | |
| XM_011517702.1:c.376+82398_376+82399insTAGGGCACCTATCCACCTATCCTCAGAAAATGACATGTTACCAAATATGAGGATAGGTGCACCAGAAAACC (INSL6) | XP_011516004.1:n.376+82398_376+82399insTAGGGCACCTATCCACCTATCC... | |
| XR_929169.1:n.485-66437_485-66436insTAGGGCACCTATCCACCTATCCTCAGAAAATGACATGTTACCAAATATGAGGATAGGTGCACCAGAAAACC (INSL6) | ||
| NM_001322194.1:c.2492_2493insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309123.1:p.Ser833LeufsTer19 | |
| NM_001322195.1:c.2492_2493insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309124.1:p.Ser833LeufsTer19 | |
| NM_001322196.1:c.2492_2493insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309125.1:p.Ser833LeufsTer19 | |
| NM_001322198.1:c.1277_1278insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309127.1:p.Ser428LeufsTer19 | |
| NM_001322199.1:c.1277_1278insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309128.1:p.Ser428LeufsTer19 | |
| NM_001322204.1:c.2045_2046insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309133.1:p.Ser684LeufsTer19 | |
| XM_011517702.3:c.376+82398_376+82399insTAGGGCACCTATCCACCTATCCTCAGAAAATGACATGTTACCAAATATGAGGATAGGTGCACCAGAAAACC (INSL6) | XP_011516004.1:n.376+82398_376+82399insTAGGGCACCTATCCACCTATCC... | |
| NM_004972.4:c.2492_2493insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) MANE Select | NP_004963.1:p.Ser833LeufsTer19 | |
| NM_001322194.2:c.2492_2493insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309123.1:p.Ser833LeufsTer19 | |
| NM_001322195.2:c.2492_2493insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309124.1:p.Ser833LeufsTer19 | |
| NM_001322196.2:c.2492_2493insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309125.1:p.Ser833LeufsTer19 | |
| NM_001322198.2:c.1277_1278insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309127.1:p.Ser428LeufsTer19 | |
| NM_001322199.2:c.1277_1278insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309128.1:p.Ser428LeufsTer19 | |
| NM_001322204.2:c.2045_2046insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | NP_001309133.1:p.Ser684LeufsTer19 | |
| NR_169763.1:n.2976_2977insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) | ||
| NR_169764.1:n.2893_2894insTTTTCTGGTGCACCTATCCTCATATTTGGTAACATGTCATTTTCTGAGGATAGGTGGATAGGTGCCCTAGG (JAK2) |