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:
100710
ClinVar RCV Id:
RCV000162234
dbSNP Id:
rs483352787
gnomAD v4:
6-49459052-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459055del , CM000668.2:g.49459055del | GRCh38 |
| NC_000006.11:g.49426768del , CM000668.1:g.49426768del | GRCh37 |
| NC_000006.10:g.49534727del | NCBI36 |
| NG_007100.1:g.9087del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.385+29del MANE Select | ENSP00000274813.3:n.385+29del | |
| ENST00000274813.3:c.385+29del | ENSP00000274813.3:n.385+29del | |
| NM_000255.3:c.385+29del | NP_000246.2:n.385+29del | |
| XM_005249143.2:c.385+29del | XP_005249200.1:n.385+29del | |
| XM_005249143.3:c.385+29del | XP_005249200.1:n.385+29del | |
| NM_000255.4:c.385+29del MANE Select | NP_000246.2:n.385+29del |