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:
2918569
ClinVar RCV Id:
RCV003619123
dbSNP Id:
rs1247059842
gnomAD v3:
11-71435495-CATGTAGATGATGTAG-C
gnomAD v4:
11-71435495-CATGTAGATGATGTAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435497_71435511del , CM000673.2:g.71435497_71435511del | GRCh38 |
| NC_000011.9:g.71146543_71146557del , CM000673.1:g.71146543_71146557del | GRCh37 |
| NC_000011.8:g.70824191_70824205del | NCBI36 |
| NG_012655.2:g.17922_17936del , LRG_340:g.17922_17936del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525346.6:c.1293_1307del | ENSP00000435707.3:p.Phe431_Met436delinsLe... | |
| ENST00000526780.6:c.1293_1307del | ENSP00000435668.2:p.Phe431_Met436delinsLe... | |
| ENST00000527316.6:c.1119_1133del | ENSP00000435047.2:p.Phe373_Met378delinsLe... | |
| ENST00000682708.1:c.1344_1358del | ENSP00000506866.1:p.Phe448_Met453delinsLe... | |
| ENST00000683287.1:c.1329_1343del | ENSP00000507607.1:p.Phe443_Met448delinsLe... | |
| ENST00000683714.1:c.*56_*70del | ENSP00000508207.1:n.*56_*70del | |
| ENST00000684396.1:n.1333_1347del | ||
| ENST00000685320.1:c.708_722del | ENSP00000509319.1:p.Phe236_Met241delinsLe... | |
| ENST00000690257.1:c.1197_1211del | ENSP00000510750.1:p.Phe399_Met404delinsLe... | |
| ENST00000355527.8:c.1293_1307del MANE Select | ENSP00000347717.4:p.Phe431_Met436delinsLe... | |
| ENST00000355527.7:c.1293_1307del | ENSP00000347717.3:p.Phe431_Met436delinsLe... | |
| ENST00000407721.6:c.1293_1307del | ENSP00000384739.2:p.Phe431_Met436delinsLe... | |
| ENST00000525137.1:c.794_808del | ENSP00000435956.1:n.794_808del | |
| ENST00000533800.5:c.543_557del | ENSP00000435011.1:p.Phe181_Met186delinsLe... | |
| ENST00000534795.5:c.319+2302_319+2316del | ||
| NM_001163817.1:c.1293_1307del | NP_001157289.1:p.Phe431_Met436delinsLeu | |
| NM_001360.2:c.1293_1307del , LRG_340t1:c.1293_1307del | NP_001351.2:p.Phe431_Met436delinsLeu | |
| XM_011544777.1:c.*56_*70del | XP_011543079.1:n.*56_*70del | |
| XM_011544777.2:c.*56_*70del | XP_011543079.1:n.*56_*70del | |
| NM_001163817.2:c.1293_1307del | NP_001157289.1:p.Phe431_Met436delinsLeu | |
| NM_001360.3:c.1293_1307del MANE Select | NP_001351.2:p.Phe431_Met436delinsLeu |