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:
189919
ClinVar RCV Id:
RCV000180871
dbSNP Id:
rs794726758
PubMed:
PMID:26096185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165992273del , CM000664.2:g.165992273del | GRCh38 |
| NC_000002.11:g.166848783del , CM000664.1:g.166848783del | GRCh37 |
| NC_000002.10:g.166557029del | NCBI36 |
| NG_011906.1:g.86368del , LRG_8:g.86368del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000689288.1:c.*3039del | ENSP00000509637.1:n.*3039del | |
| ENST00000303395.9:c.5003del | ENSP00000303540.4:p.Pro1668LeufsTer12 | |
| ENST00000635750.1:c.4970del | ENSP00000490799.1:p.Pro1657LeufsTer12 | |
| ENST00000635776.1:c.*1836del | ENSP00000490692.1:n.*1836del | |
| ENST00000636194.1:c.*2496del | ENSP00000490288.1:n.*2496del | |
| ENST00000637038.1:c.1865del | ||
| ENST00000637988.1:c.4970del | ENSP00000490780.1:p.Pro1657LeufsTer12 | |
| ENST00000640036.1:c.4970del | ENSP00000491573.1:p.Pro1657LeufsTer12 | |
| ENST00000641575.1:c.4967del | ENSP00000492917.1:p.Pro1656LeufsTer12 | |
| ENST00000641603.1:c.4721del | ENSP00000492945.1:p.Pro1574LeufsTer12 | |
| ENST00000641996.1:c.*4557del | ENSP00000493054.1:n.*4557del | |
| ENST00000671940.1:c.*2946del | ENSP00000500336.1:n.*2946del | |
| ENST00000673490.1:n.7476del | ||
| ENST00000674923.1:c.5003del MANE Select | ENSP00000501589.1:p.Pro1668LeufsTer12 | |
| ENST00000303395.8:c.5003del | ENSP00000303540.4:p.Pro1668LeufsTer12 | |
| ENST00000375405.7:c.4970del | ENSP00000364554.3:p.Pro1657LeufsTer12 | |
| ENST00000409050.1:c.4919del | ENSP00000386312.1:p.Pro1640LeufsTer12 | |
| ENST00000423058.6:c.5003del | ENSP00000407030.2:p.Pro1668LeufsTer12 | |
| NM_001165963.1:c.5003del | NP_001159435.1:p.Pro1668LeufsTer12 | |
| NM_001165964.1:c.4919del | NP_001159436.1:p.Pro1640LeufsTer12 | |
| NM_001202435.1:c.5003del | NP_001189364.1:p.Pro1668LeufsTer12 | |
| NM_006920.4:c.4970del , LRG_8t1:c.4970del | NP_008851.3:p.Pro1657LeufsTer12 | |
| NR_110598.1:n.176-23340del | ||
| XM_011511598.1:c.5003del | XP_011509900.1:p.Pro1668LeufsTer12 | |
| XM_011511599.1:c.5003del | XP_011509901.1:p.Pro1668LeufsTer12 | |
| XM_011511600.1:c.5003del | XP_011509902.1:p.Pro1668LeufsTer12 | |
| XM_011511601.1:c.5003del | XP_011509903.1:p.Pro1668LeufsTer12 | |
| XM_011511602.1:c.5003del | XP_011509904.1:p.Pro1668LeufsTer12 | |
| XM_011511603.1:c.5000del | XP_011509905.1:p.Pro1667LeufsTer12 | |
| XM_011511604.1:c.4970del | XP_011509906.1:p.Pro1657LeufsTer12 | |
| XM_011511605.1:c.4967del | XP_011509907.1:p.Pro1656LeufsTer12 | |
| XM_011511606.1:c.4919del | XP_011509908.1:p.Pro1640LeufsTer12 | |
| XM_011511607.1:c.4721del | XP_011509909.1:p.Pro1574LeufsTer12 | |
| NM_001165963.2:c.5003del | NP_001159435.1:p.Pro1668LeufsTer12 | |
| NM_001165964.2:c.4919del | NP_001159436.1:p.Pro1640LeufsTer12 | |
| NM_001202435.2:c.5003del | NP_001189364.1:p.Pro1668LeufsTer12 | |
| NM_001353948.1:c.5003del | NP_001340877.1:p.Pro1668LeufsTer12 | |
| NM_001353949.1:c.4970del | NP_001340878.1:p.Pro1657LeufsTer12 | |
| NM_001353950.1:c.4970del | NP_001340879.1:p.Pro1657LeufsTer12 | |
| NM_001353951.1:c.4970del | NP_001340880.1:p.Pro1657LeufsTer12 | |
| NM_001353952.1:c.4970del | NP_001340881.1:p.Pro1657LeufsTer12 | |
| NM_001353954.1:c.4967del | NP_001340883.1:p.Pro1656LeufsTer12 | |
| NM_001353955.1:c.4967del | NP_001340884.1:p.Pro1656LeufsTer12 | |
| NM_001353957.1:c.4919del | NP_001340886.1:p.Pro1640LeufsTer12 | |
| NM_001353958.1:c.4919del | NP_001340887.1:p.Pro1640LeufsTer12 | |
| NM_001353960.1:c.4916del | NP_001340889.1:p.Pro1639LeufsTer12 | |
| NM_001353961.1:c.2561del | NP_001340890.1:p.Pro854LeufsTer12 | |
| NM_006920.5:c.4970del | NP_008851.3:p.Pro1657LeufsTer12 | |
| NR_148667.1:n.5439del | ||
| XR_001738883.1:n.5453del | ||
| XR_001738884.1:n.5425del | ||
| NM_001165963.3:c.5003del | NP_001159435.1:p.Pro1668LeufsTer12 | |
| NM_001165964.3:c.4919del | NP_001159436.1:p.Pro1640LeufsTer12 | |
| NM_001202435.3:c.5003del | NP_001189364.1:p.Pro1668LeufsTer12 | |
| NM_001353948.2:c.5003del | NP_001340877.1:p.Pro1668LeufsTer12 | |
| NM_001353949.2:c.4970del | NP_001340878.1:p.Pro1657LeufsTer12 | |
| NM_001353950.2:c.4970del | NP_001340879.1:p.Pro1657LeufsTer12 | |
| NM_001353951.2:c.4970del | NP_001340880.1:p.Pro1657LeufsTer12 | |
| NM_001353952.2:c.4970del | NP_001340881.1:p.Pro1657LeufsTer12 | |
| NM_001353954.2:c.4967del | NP_001340883.1:p.Pro1656LeufsTer12 | |
| NM_001353955.2:c.4967del | NP_001340884.1:p.Pro1656LeufsTer12 | |
| NM_001353957.2:c.4919del | NP_001340886.1:p.Pro1640LeufsTer12 | |
| NM_001353958.2:c.4919del | NP_001340887.1:p.Pro1640LeufsTer12 | |
| NM_001353960.2:c.4916del | NP_001340889.1:p.Pro1639LeufsTer12 | |
| NM_001353961.2:c.2561del | NP_001340890.1:p.Pro854LeufsTer12 | |
| NM_006920.6:c.4970del | NP_008851.3:p.Pro1657LeufsTer12 | |
| NR_148667.2:n.5420del | ||
| NM_001165963.4:c.5003del MANE Select | NP_001159435.1:p.Pro1668LeufsTer12 |