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:
2892452
ClinVar RCV Id:
RCV003632546
gnomAD v4:
17-50199238-A-AGGGGGTCCGGGAGGTCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199250_50199267dup , CM000679.2:g.50199250_50199267dup | GRCh38 |
| NC_000017.10:g.48276611_48276628dup , CM000679.1:g.48276611_48276628dup | GRCh37 |
| NC_000017.9:g.45631610_45631627dup | NCBI36 |
| NG_007400.1:g.7384_7401dup , LRG_1:g.7384_7401dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.441_458dup MANE Select | ENSP00000225964.6:p.Pro153_Gly154insGlyPr... | |
| ENST00000225964.9:c.441_458dup | ENSP00000225964.5:p.Pro153_Gly154insGlyPr... | |
| NM_000088.3:c.441_458dup , LRG_1t1:c.441_458dup | NP_000079.2:p.Pro153_Gly154insGlyProProGl... | |
| XM_005257058.3:c.441_458dup | XP_005257115.2:p.Pro153_Gly154insGlyProPr... | |
| XM_005257059.3:c.441_458dup | XP_005257116.2:p.Pro153_Gly154insGlyProPr... | |
| XM_011524341.1:c.441_458dup | XP_011522643.1:p.Pro153_Gly154insGlyProPr... | |
| XM_005257058.4:c.441_458dup | XP_005257115.2:p.Pro153_Gly154insGlyProPr... | |
| XM_005257059.4:c.441_458dup | XP_005257116.2:p.Pro153_Gly154insGlyProPr... | |
| NM_000088.4:c.441_458dup MANE Select | NP_000079.2:p.Pro153_Gly154insGlyProProGl... |