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:
56678
ClinVar RCV Id:
RCV000050091
dbSNP Id:
rs386834098
ExAC:
8:100654550 CTA / C
gnomAD v2:
8-100654550-CTA-C
gnomAD v4:
8-99642322-CTA-C
MyVariant Identifiers:
chr8:g.100654552_100654553del (hg19)
chr8:g.100654551_100654552del (hg19)
chr8:g.99642324_99642325del (hg38)
chr8:g.99642323_99642324del (hg38)
PubMed:
PMID:15691367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99642324_99642325del , CM000670.2:g.99642324_99642325del | GRCh38 |
| NC_000008.10:g.100654552_100654553del , CM000670.1:g.100654552_100654553del | GRCh37 |
| NC_000008.9:g.100723728_100723729del | NCBI36 |
| NG_007098.2:g.634059_634060del , LRG_351:g.634059_634060del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.5809_5810del | ENSP00000507923.1:p.Ile1937CysfsTer11 | |
| ENST00000682358.1:n.5879_5880del | ||
| ENST00000683334.1:c.*1491_*1492del | ENSP00000507369.1:n.*1491_*1492del | |
| ENST00000357162.7:c.5734_5735del MANE Select | ENSP00000349685.2:p.Ile1912CysfsTer11 | |
| ENST00000358544.7:c.5809_5810del MANE Plus Clinical | ENSP00000351346.2:p.Ile1937CysfsTer11 | |
| ENST00000357162.6:c.5734_5735del | ENSP00000349685.2:p.Ile1912CysfsTer11 | |
| ENST00000358544.6:c.5809_5810del | ENSP00000351346.2:p.Ile1937CysfsTer11 | |
| NM_017890.4:c.5809_5810del , LRG_351t1:c.5809_5810del | NP_060360.3:p.Ile1937CysfsTer11 | |
| NM_152564.4:c.5734_5735del , LRG_351t2:c.5734_5735del | NP_689777.3:p.Ile1912CysfsTer11 | |
| XM_005250800.2:c.5809_5810del | XP_005250857.1:p.Ile1937CysfsTer11 | |
| XM_005250801.3:c.5809_5810del | XP_005250858.1:p.Ile1937CysfsTer11 | |
| XM_011516848.1:c.5806_5807del | XP_011515150.1:p.Ile1936CysfsTer11 | |
| XM_011516849.1:c.5731_5732del | XP_011515151.1:p.Ile1911CysfsTer11 | |
| XM_011516850.1:c.5431_5432del | XP_011515152.1:p.Ile1811CysfsTer11 | |
| XM_011516851.1:c.2695_2696del | XP_011515153.1:p.Ile899CysfsTer11 | |
| XM_011516852.1:c.2695_2696del | XP_011515154.1:p.Ile899CysfsTer11 | |
| XM_011516853.1:c.5809_5810del | XP_011515155.1:p.Ile1937CysfsTer11 | |
| XM_011516854.1:c.1588_1589del | XP_011515156.1:p.Ile530CysfsTer11 | |
| XM_005250800.3:c.5809_5810del | XP_005250857.1:p.Ile1937CysfsTer11 | |
| XM_005250801.5:c.5809_5810del | XP_005250858.1:p.Ile1937CysfsTer11 | |
| XM_011516848.2:c.5806_5807del | XP_011515150.1:p.Ile1936CysfsTer11 | |
| XM_011516849.2:c.5731_5732del | XP_011515151.1:p.Ile1911CysfsTer11 | |
| XM_011516850.2:c.5431_5432del | XP_011515152.1:p.Ile1811CysfsTer11 | |
| XM_011516851.2:c.2695_2696del | XP_011515153.1:p.Ile899CysfsTer11 | |
| XM_011516852.2:c.2695_2696del | XP_011515154.1:p.Ile899CysfsTer11 | |
| XM_011516853.2:c.5809_5810del | XP_011515155.1:p.Ile1937CysfsTer11 | |
| XM_011516854.2:c.1588_1589del | XP_011515156.1:p.Ile530CysfsTer11 | |
| XM_017013109.1:c.5614_5615del | XP_016868598.1:p.Ile1872CysfsTer11 | |
| XM_017013111.1:c.2695_2696del | XP_016868600.1:p.Ile899CysfsTer11 | |
| XM_017013112.1:c.1366_1367del | XP_016868601.1:p.Ile456CysfsTer11 | |
| XM_024447074.1:c.4594_4595del | XP_024302842.1:p.Ile1532CysfsTer11 | |
| XR_001745482.2:n.5770_5771del | ||
| NM_017890.5:c.5809_5810del MANE Plus Clinical | NP_060360.3:p.Ile1937CysfsTer11 | |
| NM_152564.5:c.5734_5735del MANE Select | NP_689777.3:p.Ile1912CysfsTer11 |