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:
rs762780912
ExAC:
2:203384955 CAT / C
gnomAD v2:
2-203384955-CAT-C
gnomAD v4:
2-202520232-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202520233_202520234del , CM000664.2:g.202520233_202520234del | GRCh38 |
| NC_000002.11:g.203384956_203384957del , CM000664.1:g.203384956_203384957del | GRCh37 |
| NC_000002.10:g.203093201_203093202del | NCBI36 |
| NG_009363.1:g.148907_148908del , LRG_712:g.148907_148908del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.967+32_967+33del MANE Select | ENSP00000363708.4:n.967+32_967+33del | |
| ENST00000638587.1:c.898+32_898+33del | ENSP00000491062.1:n.898+32_898+33del | |
| ENST00000374574.2:c.967+32_967+33del | ENSP00000363702.2:n.967+32_967+33del | |
| ENST00000374580.8:c.967+32_967+33del | ENSP00000363708.4:n.967+32_967+33del | |
| NM_001204.6:c.967+32_967+33del , LRG_712t1:c.967+32_967+33del | NP_001195.2:n.967+32_967+33del | |
| XM_011511687.1:c.967+32_967+33del | XP_011509989.1:n.967+32_967+33del | |
| XM_011511688.1:c.967+32_967+33del | XP_011509990.1:n.967+32_967+33del | |
| NM_001204.7:c.967+32_967+33del MANE Select | NP_001195.2:n.967+32_967+33del |