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:
813485
ClinVar RCV Id:
RCV001004589
dbSNP Id:
rs1318653026
gnomAD v2:
11-71146771-G-GGT
gnomAD v3:
11-71435725-G-GGT
gnomAD v4:
11-71435725-G-GGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435726_71435727dup , CM000673.2:g.71435726_71435727dup | GRCh38 |
| NC_000011.9:g.71146772_71146773dup , CM000673.1:g.71146772_71146773dup | GRCh37 |
| NC_000011.8:g.70824420_70824421dup | NCBI36 |
| NG_012655.2:g.17705_17706dup , LRG_340:g.17705_17706dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525346.6:c.1076_1077dup | ENSP00000435707.3:p.Leu360ThrfsTer? | |
| ENST00000526780.6:c.1076_1077dup | ENSP00000435668.2:p.Leu360ThrfsTer? | |
| ENST00000527316.6:c.902_903dup | ENSP00000435047.2:p.Leu302ThrfsTer? | |
| ENST00000682708.1:c.1127_1128dup | ENSP00000506866.1:p.Leu377ThrfsTer? | |
| ENST00000683287.1:c.1112_1113dup | ENSP00000507607.1:p.Leu372ThrfsTer? | |
| ENST00000683714.1:c.1084_1085dup | ENSP00000508207.1:p.Cys363ProfsTer? | |
| ENST00000684396.1:n.1116_1117dup | ||
| ENST00000685320.1:c.491_492dup | ENSP00000509319.1:p.Leu165ThrfsTer? | |
| ENST00000690257.1:c.980_981dup | ENSP00000510750.1:p.Leu328ThrfsTer? | |
| ENST00000355527.8:c.1076_1077dup MANE Select | ENSP00000347717.4:p.Leu360ThrfsTer? | |
| ENST00000355527.7:c.1076_1077dup | ENSP00000347717.3:p.Leu360ThrfsTer? | |
| ENST00000407721.6:c.1076_1077dup | ENSP00000384739.2:p.Leu360ThrfsTer? | |
| ENST00000525137.1:c.577_578dup | ENSP00000435956.1:p.Cys194ProfsTer? | |
| ENST00000533800.5:c.326_327dup | ENSP00000435011.1:p.Leu110ThrfsTer? | |
| ENST00000534795.5:c.319+2085_319+2086dup | ||
| NM_001163817.1:c.1076_1077dup | NP_001157289.1:p.Leu360ThrfsTer? | |
| NM_001360.2:c.1076_1077dup , LRG_340t1:c.1076_1077dup | NP_001351.2:p.Leu360ThrfsTer? | |
| XM_011544777.1:c.1210_1211dup | XP_011543079.1:p.Cys405ProfsTer? | |
| XM_011544777.2:c.1210_1211dup | XP_011543079.1:p.Cys405ProfsTer? | |
| NM_001163817.2:c.1076_1077dup | NP_001157289.1:p.Leu360ThrfsTer? | |
| NM_001360.3:c.1076_1077dup MANE Select | NP_001351.2:p.Leu360ThrfsTer? |