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:
139611
ClinVar RCV Id:
RCV000128555
dbSNP Id:
rs587777503
ExAC:
5:54528273 CAG / C
gnomAD v2:
5-54528273-CAG-C
gnomAD v3:
5-55232445-CAG-C
gnomAD v4:
5-55232445-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232448_55232449del , CM000667.2:g.55232448_55232449del | GRCh38 |
| NC_000005.9:g.54528276_54528277del , CM000667.1:g.54528276_54528277del | GRCh37 |
| NC_000005.8:g.54564033_54564034del | NCBI36 |
| NG_034201.1:g.6271_6272del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282572.5:c.481_482del MANE Select | ENSP00000282572.4:p.Leu161GlyfsTer? | |
| ENST00000282572.4:c.481_482del | ENSP00000282572.4:p.Leu161GlyfsTer? | |
| ENST00000501463.2:c.*461_*462del | ENSP00000422485.1:n.*461_*462del | |
| NM_021147.4:c.481_482del | NP_066970.3:p.Leu161GlyfsTer? | |
| NR_125346.1:n.1051_1052del | ||
| NR_125347.1:n.680_681del | ||
| NR_125348.1:n.545_546del | ||
| NM_021147.5:c.481_482del MANE Select | NP_066970.3:p.Leu161GlyfsTer? | |
| NR_125346.2:n.942_943del | ||
| NR_125347.2:n.571_572del |