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:
205420
ClinVar RCV Id:
RCV000187378
dbSNP Id:
rs796052421
gnomAD v4:
6-52479069-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479072del , CM000668.2:g.52479072del | GRCh38 |
| NC_000006.11:g.52343870del , CM000668.1:g.52343870del | GRCh37 |
| NC_000006.10:g.52451829del | NCBI36 |
| NG_016760.1:g.63877del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371068.11:c.1314del MANE Select | ENSP00000360107.4:p.Phe438LeufsTer7 | |
| ENST00000480623.6:c.1314del | ENSP00000434498.2:p.Phe438LeufsTer7 | |
| ENST00000635760.1:c.990del | ENSP00000489765.1:p.Phe330LeufsTer7 | |
| ENST00000635812.1:c.*615del | ENSP00000490859.1:n.*615del | |
| ENST00000635866.1:c.*1183del | ENSP00000489866.1:n.*1183del | |
| ENST00000635911.1:n.2832del | ||
| ENST00000635984.1:c.990del | ENSP00000489921.1:p.Phe330LeufsTer7 | |
| ENST00000635996.1:c.1314del | ENSP00000490256.1:p.Phe438LeufsTer7 | |
| ENST00000636107.1:c.1314del | ENSP00000489680.1:p.Phe438LeufsTer7 | |
| ENST00000636311.1:n.1208del | ||
| ENST00000636343.1:c.980del | ||
| ENST00000636379.1:c.1026del | ENSP00000490622.1:p.Phe342LeufsTer7 | |
| ENST00000636398.1:c.1014del | ENSP00000489654.1:n.1014del | |
| ENST00000636489.1:c.1257del | ENSP00000489998.1:p.Phe419LeufsTer7 | |
| ENST00000636616.1:n.895-20del | ||
| ENST00000636702.1:c.1284del | ENSP00000489623.1:p.Phe428LeufsTer7 | |
| ENST00000636954.1:c.1257del | ENSP00000489966.1:p.Phe419LeufsTer7 | |
| ENST00000637089.1:c.1314del | ENSP00000489854.1:p.Phe438LeufsTer7 | |
| ENST00000637121.1:n.1116del | ||
| ENST00000637263.1:c.1314del | ENSP00000489700.1:p.Phe438LeufsTer7 | |
| ENST00000637340.1:n.3239del | ||
| ENST00000637353.1:c.1314del | ENSP00000490441.1:p.Phe438LeufsTer7 | |
| ENST00000637602.1:c.*1015del | ENSP00000490074.1:n.*1015del | |
| ENST00000637849.1:n.1378del | ||
| ENST00000637874.1:c.259del | ENSP00000490348.1:n.259del | |
| ENST00000637892.1:n.1518del | ||
| ENST00000371068.9:c.1314del | ENSP00000360107.4:p.Phe438LeufsTer7 | |
| ENST00000480623.5:c.*1734del | ENSP00000434498.1:n.*1734del | |
| ENST00000538167.2:c.1257del | ENSP00000444521.1:p.Phe419LeufsTer7 | |
| NM_001172420.1:c.1257del | NP_001165891.1:p.Phe419LeufsTer7 | |
| NM_018100.3:c.1314del | NP_060570.2:p.Phe438LeufsTer7 | |
| NR_033327.1:n.2786del | ||
| NM_018100.4:c.1314del MANE Select | NP_060570.2:p.Phe438LeufsTer7 | |
| NM_001172420.2:c.1257del | NP_001165891.1:p.Phe419LeufsTer7 | |
| NR_033327.2:n.2640del |