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:
732091
ClinVar RCV Id:
RCV000907167
dbSNP Id:
rs756443807
ExAC:
21:45716334 GC / G
gnomAD v2:
21-45716334-GC-G
gnomAD v4:
21-44296451-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44296453del , CM000683.2:g.44296453del | GRCh38 |
| NC_000021.8:g.45716336del , CM000683.1:g.45716336del | GRCh37 |
| NC_000021.7:g.44540764del | NCBI36 |
| NG_009556.1:g.15574del , LRG_18:g.15574del | |
| NG_034033.1:g.1420del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291582.6:c.1566+8del MANE Select | ENSP00000291582.5:n.1566+8del | |
| ENST00000291582.5:c.1566+8del | ENSP00000291582.5:n.1566+8del | |
| ENST00000337909.5:n.1027+8del | ||
| ENST00000397994.8:n.945+8del | ||
| ENST00000527919.5:n.2325+8del | ||
| ENST00000530812.5:n.3313+8del | ||
| NM_000383.3:c.1566+8del | NP_000374.1:n.1566+8del | |
| XM_011529551.1:c.1563+8del | XP_011527853.1:n.1563+8del | |
| NM_000383.4:c.1566+8del MANE Select | NP_000374.1:n.1566+8del |