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:
11061
ClinVar RCV Id:
RCV000011810
dbSNP Id:
rs672601325
PubMed:
PMID:12707446
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150641345del , CM000685.2:g.150641345del | GRCh38 |
| NC_000023.10:g.149809818del , CM000685.1:g.149809818del | GRCh37 |
| NC_000023.9:g.149560476del | NCBI36 |
| NG_008199.1:g.77772del , LRG_839:g.77772del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684910.1:c.*138del | ENSP00000509844.1:n.*138del | |
| ENST00000685439.1:c.260del | ENSP00000508454.1:p.Leu87TrpfsTer? | |
| ENST00000685944.1:c.605del | ENSP00000509266.1:p.Leu202TrpfsTer? | |
| ENST00000686212.1:n.207del | ||
| ENST00000687215.1:c.*360del | ENSP00000509706.1:n.*360del | |
| ENST00000688152.1:c.*49del | ENSP00000509360.1:n.*49del | |
| ENST00000688403.1:c.-140del | ENSP00000508944.1:n.-140del | |
| ENST00000689314.1:c.650del | ENSP00000510607.1:p.Leu217TrpfsTer? | |
| ENST00000689694.1:c.605del | ENSP00000508718.1:p.Leu202TrpfsTer? | |
| ENST00000689810.1:c.*254del | ENSP00000510635.1:n.*254del | |
| ENST00000690282.1:c.-140del | ENSP00000509809.1:n.-140del | |
| ENST00000690351.1:c.*257del | ENSP00000509728.1:n.*257del | |
| ENST00000691232.1:c.260del | ENSP00000509675.1:p.Leu87TrpfsTer? | |
| ENST00000691482.1:n.1620del | ||
| ENST00000691686.1:c.605del | ENSP00000509784.1:p.Leu202TrpfsTer? | |
| ENST00000691851.1:c.605del | ENSP00000510106.1:p.Leu202TrpfsTer? | |
| ENST00000692015.1:c.392del | ENSP00000510634.1:p.Leu131TrpfsTer? | |
| ENST00000692638.1:c.*410del | ENSP00000509412.1:n.*410del | |
| ENST00000692852.1:c.605del | ENSP00000510337.1:p.Leu202TrpfsTer? | |
| ENST00000692915.1:c.*812del | ENSP00000508547.1:n.*812del | |
| ENST00000370396.7:c.605del MANE Select | ENSP00000359423.3:p.Leu202TrpfsTer? | |
| ENST00000306167.11:n.472del | ||
| ENST00000370396.6:c.605del | ENSP00000359423.2:p.Leu202TrpfsTer? | |
| ENST00000490530.1:n.544del | ||
| NM_000252.2:c.605del , LRG_839t1:c.605del | NP_000243.1:p.Leu202TrpfsTer? | |
| XM_005274687.2:c.605del | XP_005274744.1:p.Leu202TrpfsTer? | |
| XM_011531170.1:c.671del | XP_011529472.1:p.Leu224TrpfsTer? | |
| XM_011531171.1:c.650del | XP_011529473.1:p.Leu217TrpfsTer? | |
| XM_011531172.1:c.650del | XP_011529474.1:p.Leu217TrpfsTer? | |
| XM_011531173.1:c.605del | XP_011529475.1:p.Leu202TrpfsTer? | |
| XM_011531173.2:c.605del | XP_011529475.1:p.Leu202TrpfsTer? | |
| XM_017029547.1:c.650del | XP_016885036.1:p.Leu217TrpfsTer? | |
| XM_017029548.1:c.650del | XP_016885037.1:p.Leu217TrpfsTer? | |
| XM_017029549.1:c.605del | XP_016885038.1:p.Leu202TrpfsTer? | |
| XM_017029550.1:c.494del | XP_016885039.1:p.Leu165TrpfsTer? | |
| XM_017029551.2:c.-140del | XP_016885040.1:n.-140del | |
| NM_000252.3:c.605del MANE Select | NP_000243.1:p.Leu202TrpfsTer? | |
| NM_001376906.1:c.605del | NP_001363835.1:p.Leu202TrpfsTer? | |
| NM_001376907.1:c.494del | NP_001363836.1:p.Leu165TrpfsTer? | |
| NM_001376908.1:c.605del | NP_001363837.1:p.Leu202TrpfsTer? |