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.
Linked Data
ClinVar Variation Id:
56641
ClinVar RCV Id:
RCV000050054
dbSNP Id:
rs386834067
MyVariant Identifiers:
chr8:g.100883885_100883889delinsAA (hg19)
chr8:g.99871657_99871661delinsAA (hg38)
PubMed:
PMID:16648375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99871657_99871661delinsAA , CM000670.2:g.99871657_99871661delinsAA | GRCh38 |
| NC_000008.10:g.100883885_100883889delinsAA , CM000670.1:g.100883885_100883889delinsAA | GRCh37 |
| NC_000008.9:g.100953061_100953065delinsAA | NCBI36 |
| NG_007098.2:g.863392_863396delinsAA , LRG_351:g.863392_863396delinsAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.*1434_*1438delinsAA | ENSP00000507923.1:n.*1434_*1438delinsAA | |
| ENST00000682358.1:n.12410_12414delinsAA | ||
| ENST00000683334.1:c.*7462_*7466delinsAA | ENSP00000507369.1:n.*7462_*7466delinsAA | |
| ENST00000357162.7:c.11705_11709delinsAA MANE Select | ENSP00000349685.2:p.Thr3902_Val3903delins... | |
| ENST00000358544.7:c.11780_11784delinsAA MANE Plus Clinical | ENSP00000351346.2:p.Thr3927_Val3928delins... | |
| ENST00000357162.6:c.11705_11709delinsAA | ENSP00000349685.2:p.Thr3902_Val3903delins... | |
| ENST00000358544.6:c.11780_11784delinsAA | ENSP00000351346.2:p.Thr3927_Val3928delins... | |
| ENST00000493587.1:n.1282_1286delinsAA | ||
| NM_017890.4:c.11780_11784delinsAA , LRG_351t1:c.11780_11784delinsAA | NP_060360.3:p.Thr3927_Val3928delinsLys | |
| NM_152564.4:c.11705_11709delinsAA , LRG_351t2:c.11705_11709delinsAA | NP_689777.3:p.Thr3902_Val3903delinsLys | |
| XM_005250800.2:c.11780_11784delinsAA | XP_005250857.1:p.Thr3927_Val3928delinsLys... | |
| XM_005250801.3:c.11780_11784delinsAA | XP_005250858.1:p.Thr3927_Val3928delinsLys... | |
| XM_011516848.1:c.11777_11781delinsAA | XP_011515150.1:p.Thr3926_Val3927delinsLys... | |
| XM_011516849.1:c.11702_11706delinsAA | XP_011515151.1:p.Thr3901_Val3902delinsLys... | |
| XM_011516850.1:c.11402_11406delinsAA | XP_011515152.1:p.Thr3801_Val3802delinsLys... | |
| XM_011516851.1:c.8666_8670delinsAA | XP_011515153.1:p.Thr2889_Val2890delinsLys... | |
| XM_011516852.1:c.8666_8670delinsAA | XP_011515154.1:p.Thr2889_Val2890delinsLys... | |
| XM_011516854.1:c.7559_7563delinsAA | XP_011515156.1:p.Thr2520_Val2521delinsLys... | |
| XM_005250800.3:c.11780_11784delinsAA | XP_005250857.1:p.Thr3927_Val3928delinsLys... | |
| XM_005250801.5:c.11780_11784delinsAA | XP_005250858.1:p.Thr3927_Val3928delinsLys... | |
| XM_011516848.2:c.11777_11781delinsAA | XP_011515150.1:p.Thr3926_Val3927delinsLys... | |
| XM_011516849.2:c.11702_11706delinsAA | XP_011515151.1:p.Thr3901_Val3902delinsLys... | |
| XM_011516850.2:c.11402_11406delinsAA | XP_011515152.1:p.Thr3801_Val3802delinsLys... | |
| XM_011516851.2:c.8666_8670delinsAA | XP_011515153.1:p.Thr2889_Val2890delinsLys... | |
| XM_011516852.2:c.8666_8670delinsAA | XP_011515154.1:p.Thr2889_Val2890delinsLys... | |
| XM_011516854.2:c.7559_7563delinsAA | XP_011515156.1:p.Thr2520_Val2521delinsLys... | |
| XM_017013109.1:c.11585_11589delinsAA | XP_016868598.1:p.Thr3862_Val3863delinsLys... | |
| XM_017013111.1:c.8666_8670delinsAA | XP_016868600.1:p.Thr2889_Val2890delinsLys... | |
| XM_017013112.1:c.7337_7341delinsAA | XP_016868601.1:p.Thr2446_Val2447delinsLys... | |
| XM_024447074.1:c.10565_10569delinsAA | XP_024302842.1:p.Thr3522_Val3523delinsLys... | |
| NM_017890.5:c.11780_11784delinsAA MANE Plus Clinical | NP_060360.3:p.Thr3927_Val3928delinsLys | |
| NM_152564.5:c.11705_11709delinsAA MANE Select | NP_689777.3:p.Thr3902_Val3903delinsLys |