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:
65859
dbSNP Id:
rs587778791
gnomAD v3:
2-240757336-CA-C
gnomAD v4:
2-240757336-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240757337del , CM000664.2:g.240757337del | GRCh38 |
| NC_000002.11:g.241696754del , CM000664.1:g.241696754del | GRCh37 |
| NC_000002.10:g.241345427del | NCBI36 |
| NG_029724.1:g.67871del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320389.12:c.2555+1023del | ENSP00000322791.8:n.2555+1023del | |
| ENST00000404283.9:c.2840del | ENSP00000384231.5:p.Leu947ArgfsTer4 | |
| ENST00000498729.9:c.2840del MANE Select | ENSP00000438388.1:p.Leu947ArgfsTer4 | |
| ENST00000647731.1:c.2555+1023del | ENSP00000498099.1:n.2555+1023del | |
| ENST00000647885.1:c.2555+1023del | ENSP00000497739.1:n.2555+1023del | |
| ENST00000648047.1:c.1793+1023del | ENSP00000497935.1:n.1793+1023del | |
| ENST00000648129.1:c.2813del | ENSP00000497293.1:p.Leu938ArgfsTer4 | |
| ENST00000648364.1:c.2582+1023del | ENSP00000498196.1:n.2582+1023del | |
| ENST00000648680.1:c.2582+1023del | ENSP00000497586.1:n.2582+1023del | |
| ENST00000649064.1:n.2713+1023del | ||
| ENST00000649096.1:c.2555+1023del | ENSP00000497030.1:n.2555+1023del | |
| ENST00000649190.1:n.1852+1023del | ||
| ENST00000649306.1:c.2657+1023del | ENSP00000497678.1:n.2657+1023del | |
| ENST00000650053.1:c.2555+1023del | ENSP00000497824.1:n.2555+1023del | |
| ENST00000650130.1:c.2813del | ENSP00000498082.1:p.Leu938ArgfsTer4 | |
| ENST00000650430.1:n.1930+1023del | ||
| ENST00000320389.11:c.2555+1023del | ENSP00000322791.7:n.2555+1023del | |
| ENST00000404283.7:c.2840del | ENSP00000384231.3:p.Leu947ArgfsTer4 | |
| ENST00000498729.6:c.2840del | ENSP00000438388.1:p.Leu947ArgfsTer4 | |
| NM_001244008.1:c.2840del | NP_001230937.1:p.Leu947ArgfsTer4 | |
| NM_004321.6:c.2555+1023del | NP_004312.2:n.2555+1023del | |
| XM_005247022.1:c.2840del | XP_005247079.1:p.Leu947ArgfsTer4 | |
| XM_005247023.1:c.2840del | XP_005247080.1:p.Leu947ArgfsTer4 | |
| XM_005247024.1:c.2813del | XP_005247081.1:p.Leu938ArgfsTer4 | |
| XM_005247026.1:c.2582+1023del | XP_005247083.1:n.2582+1023del | |
| XM_005247027.1:c.2555+1023del | XP_005247084.1:n.2555+1023del | |
| XM_005247028.1:c.2555+1023del | XP_005247085.1:n.2555+1023del | |
| XM_006712605.1:c.2813del | XP_006712668.1:p.Leu938ArgfsTer4 | |
| XM_011511364.1:c.2840del | XP_011509666.1:p.Leu947ArgfsTer4 | |
| XM_011511365.1:c.2582+1023del | XP_011509667.1:n.2582+1023del | |
| XM_011511366.1:c.1835del | XP_011509668.1:p.Leu612ArgfsTer4 | |
| XM_011511367.1:c.1835del | XP_011509669.1:p.Leu612ArgfsTer4 | |
| NM_001320705.1:c.2582+1023del | NP_001307634.1:n.2582+1023del | |
| NM_001330289.1:c.2582+1023del | NP_001317218.1:n.2582+1023del | |
| NM_001330290.1:c.2657+1023del | NP_001317219.1:n.2657+1023del | |
| NM_004321.7:c.2555+1023del | NP_004312.2:n.2555+1023del | |
| NM_001320705.2:c.2582+1023del | NP_001307634.1:n.2582+1023del | |
| NM_001330289.2:c.2582+1023del | NP_001317218.1:n.2582+1023del | |
| NM_001330290.2:c.2657+1023del | NP_001317219.1:n.2657+1023del | |
| NM_001244008.2:c.2840del MANE Select | NP_001230937.1:p.Leu947ArgfsTer4 | |
| NM_001379631.1:c.2915del | NP_001366560.1:p.Leu972ArgfsTer4 | |
| NM_001379632.1:c.2789del | NP_001366561.1:p.Leu930ArgfsTer4 | |
| NM_001379633.1:c.2813del | NP_001366562.1:p.Leu938ArgfsTer4 | |
| NM_001379634.1:c.2657+1023del | NP_001366563.1:n.2657+1023del | |
| NM_001379635.1:c.2657+1023del | NP_001366564.1:n.2657+1023del | |
| NM_001379636.1:c.2555+1023del | NP_001366565.1:n.2555+1023del | |
| NM_001379637.1:c.2630+1023del | NP_001366566.1:n.2630+1023del | |
| NM_001379638.1:c.2582+1023del | NP_001366567.1:n.2582+1023del | |
| NM_001379639.1:c.2555+1023del | NP_001366568.1:n.2555+1023del | |
| NM_001379640.1:c.2555+1023del | NP_001366569.1:n.2555+1023del | |
| NM_001379641.1:c.2555+1023del | NP_001366570.1:n.2555+1023del | |
| NM_001379642.1:c.2813del | NP_001366571.1:p.Leu938ArgfsTer4 | |
| NM_001379645.1:c.2813del | NP_001366574.1:p.Leu938ArgfsTer4 | |
| NM_001379646.1:c.2657+1023del | NP_001366575.1:n.2657+1023del | |
| NM_001379648.1:c.2630+1023del | NP_001366577.1:n.2630+1023del | |
| NM_001379649.1:c.2555+1023del | NP_001366578.1:n.2555+1023del | |
| NM_001379650.1:c.2555+1023del | NP_001366579.1:n.2555+1023del | |
| NM_001379651.1:c.2555+1023del | NP_001366580.1:n.2555+1023del | |
| NM_001379653.1:c.2555+1023del | NP_001366582.1:n.2555+1023del | |
| NM_004321.8:c.2555+1023del | NP_004312.2:n.2555+1023del |