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:
204288
ClinVar RCV Id:
RCV000186495
dbSNP Id:
rs796052092
gnomAD v4:
10-97601957-ACTG-A
PubMed:
PMID:24563386
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97601959_97601961del , CM000672.2:g.97601959_97601961del | GRCh38 |
| NC_000010.10:g.99361716_99361718del , CM000672.1:g.99361716_99361718del | GRCh37 |
| NC_000010.9:g.99351706_99351708del | NCBI36 |
| NG_027922.1:g.22615_22617del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370646.9:c.803_805del MANE Select | ENSP00000359680.4:p.Leu268del | |
| ENST00000370642.4:c.213_215del | ||
| ENST00000370646.8:c.803_805del | ENSP00000359680.4:p.Leu268del | |
| ENST00000370647.8:c.314_316del | ENSP00000359681.4:p.Leu105del | |
| ENST00000370649.3:c.314_316del | ENSP00000359683.3:p.Leu105del | |
| NM_001134670.1:c.314_316del | NP_001128142.1:p.Leu105del | |
| NM_138413.3:c.803_805del | NP_612422.2:p.Leu268del | |
| NM_138413.4:c.803_805del MANE Select | NP_612422.2:p.Leu268del | |
| NM_001134670.2:c.314_316del | NP_001128142.1:p.Leu105del |