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
dbSNP Id:
rs34204820
gnomAD v2:
9-86922047-C-CAAAA
gnomAD v3:
9-84307132-C-CAAAA
gnomAD v4:
9-84307132-C-CAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84307145_84307148dup , CM000671.2:g.84307145_84307148dup | GRCh38 |
| NC_000009.11:g.86922060_86922063dup , CM000671.1:g.86922060_86922063dup | GRCh37 |
| NC_000009.10:g.86111880_86111883dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376238.5:c.243-1791_243-1788dup MANE Select | ENSP00000365413.4:n.243-1791_243-1788dup | |
| ENST00000376238.4:c.243-1791_243-1788dup | ENSP00000365413.4:n.243-1791_243-1788dup | |
| ENST00000495823.1:n.445-1791_445-1788dup | ||
| NM_001199633.1:c.243-1791_243-1788dup | NP_001186562.1:n.243-1791_243-1788dup | |
| NM_022127.2:c.243-1791_243-1788dup | NP_071410.1:n.243-1791_243-1788dup | |
| NR_037638.2:n.565-1791_565-1788dup | ||
| XM_011518905.1:c.418+2493_418+2496dup | XP_011517207.1:n.418+2493_418+2496dup | |
| XM_011518906.1:c.418+2493_418+2496dup | XP_011517208.1:n.418+2493_418+2496dup | |
| XM_011518907.1:c.85+2493_85+2496dup | XP_011517209.1:n.85+2493_85+2496dup | |
| XM_011518909.1:c.418+2493_418+2496dup | XP_011517211.1:n.418+2493_418+2496dup | |
| XM_011518910.1:c.418+2493_418+2496dup | XP_011517212.1:n.418+2493_418+2496dup | |
| XR_929832.1:n.545+2493_545+2496dup | ||
| XM_011518905.2:c.418+2493_418+2496dup | XP_011517207.1:n.418+2493_418+2496dup | |
| XM_011518906.2:c.418+2493_418+2496dup | XP_011517208.1:n.418+2493_418+2496dup | |
| XM_011518907.2:c.85+2493_85+2496dup | XP_011517209.1:n.85+2493_85+2496dup | |
| XM_011518909.2:c.418+2493_418+2496dup | XP_011517211.1:n.418+2493_418+2496dup | |
| XM_011518910.2:c.418+2493_418+2496dup | XP_011517212.1:n.418+2493_418+2496dup | |
| XR_929832.2:n.550+2493_550+2496dup | ||
| NM_001199633.2:c.243-1791_243-1788dup MANE Select | NP_001186562.1:n.243-1791_243-1788dup | |
| NM_022127.3:c.243-1791_243-1788dup | NP_071410.1:n.243-1791_243-1788dup | |
| NR_037638.3:n.544-1791_544-1788dup |