WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
39054
ClinVar RCV Id:
RCV000032319
dbSNP Id:
rs281864995
gnomAD v4:
12-101764372-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101764376del , CM000674.2:g.101764376del | GRCh38 |
| NC_000012.11:g.102158154del , CM000674.1:g.102158154del | GRCh37 |
| NC_000012.10:g.100682285del | NCBI36 |
| NG_021243.1:g.71495del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.2544del MANE Select | ENSP00000299314.7:p.Glu849LysfsTer22 | |
| ENST00000299314.11:c.2544del | ENSP00000299314.7:p.Glu849LysfsTer22 | |
| NM_024312.4:c.2544del | NP_077288.2:p.Glu849LysfsTer22 | |
| XM_006719593.2:c.2544del | XP_006719656.1:p.Glu849LysfsTer22 | |
| XM_011538731.1:c.2463del | XP_011537033.1:p.Glu822LysfsTer22 | |
| XM_006719593.3:c.2544del | XP_006719656.1:p.Glu849LysfsTer22 | |
| XM_011538731.2:c.2463del | XP_011537033.1:p.Glu822LysfsTer22 | |
| XM_017019961.1:c.2328del | XP_016875450.1:p.Glu777LysfsTer22 | |
| XM_017019962.2:c.1317del | XP_016875451.1:p.Glu440LysfsTer22 | |
| NM_024312.5:c.2544del MANE Select | NP_077288.2:p.Glu849LysfsTer22 |