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:
417968
ClinVar RCV Id:
RCV000477965
dbSNP Id:
rs1060505054
PubMed:
PMID:27081522
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.61404122del , CM000663.2:g.61404122del | GRCh38 |
| NC_000001.10:g.61869794del , CM000663.1:g.61869794del | GRCh37 |
| NC_000001.9:g.61642382del | NCBI36 |
| NG_011787.1:g.331849del | |
| NG_011787.2:g.331849del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000482020.2:c.1148del | ENSP00000474806.2:p.Pro383HisfsTer? | |
| ENST00000699964.1:c.1070del | ENSP00000514720.1:p.Pro357HisfsTer? | |
| ENST00000699965.1:c.1094del | ENSP00000514721.1:p.Pro365HisfsTer? | |
| ENST00000699966.1:c.1094del | ENSP00000514722.1:p.Pro365HisfsTer? | |
| ENST00000699967.1:c.848del | ENSP00000514723.1:p.Pro283HisfsTer? | |
| ENST00000699968.1:c.569del | ENSP00000514724.1:p.Pro190HisfsTer? | |
| ENST00000699986.1:c.1028del | ENSP00000514739.1:p.Pro343HisfsTer? | |
| ENST00000699987.1:c.1217del | ENSP00000514740.1:p.Pro406HisfsTer? | |
| ENST00000403491.8:c.1094del MANE Select | ENSP00000384523.3:p.Pro365HisfsTer? | |
| ENST00000655770.1:c.*141del | ENSP00000499326.1:n.*141del | |
| ENST00000657234.1:c.326del | ENSP00000499693.1:p.Pro109HisfsTer? | |
| ENST00000662015.1:c.*718del | ENSP00000499312.1:n.*718del | |
| ENST00000663597.1:c.326del | ENSP00000499597.1:p.Pro109HisfsTer? | |
| ENST00000664149.1:c.1094del | ENSP00000499651.1:p.Pro365HisfsTer? | |
| ENST00000664495.1:c.*1186del | ENSP00000499306.1:n.*1186del | |
| ENST00000670151.1:c.*161del | ENSP00000499729.1:n.*161del | |
| ENST00000357977.5:c.38del | ENSP00000474462.1:p.Pro13HisfsTer? | |
| ENST00000371184.6:c.707del | ENSP00000360226.1:p.Pro236HisfsTer? | |
| ENST00000371185.6:c.1028del | ENSP00000360227.1:p.Pro343HisfsTer? | |
| ENST00000371187.7:c.1094del | ENSP00000360229.3:p.Pro365HisfsTer? | |
| ENST00000371189.8:c.1229del | ENSP00000360231.3:p.Pro410HisfsTer? | |
| ENST00000371191.5:c.1163del | ENSP00000360233.1:p.Pro388HisfsTer? | |
| ENST00000403491.7:c.1094del | ENSP00000384523.3:p.Pro365HisfsTer? | |
| ENST00000407417.7:c.1070del | ENSP00000384680.2:p.Pro357HisfsTer? | |
| ENST00000479364.1:n.684del | ||
| ENST00000482020.1:c.448del | ||
| ENST00000485903.6:c.965del | ENSP00000419785.2:p.Pro322HisfsTer? | |
| NM_001134673.3:c.1094del | NP_001128145.1:p.Pro365HisfsTer? | |
| NM_001145511.1:c.1070del | NP_001138983.1:p.Pro357HisfsTer? | |
| NM_001145512.1:c.1229del | NP_001138984.1:p.Pro410HisfsTer? | |
| NM_005595.4:c.1094del | NP_005586.1:p.Pro365HisfsTer? | |
| XM_011541512.1:c.1148del | XP_011539814.1:p.Pro383HisfsTer? | |
| XM_011541513.1:c.1148del | XP_011539815.1:p.Pro383HisfsTer? | |
| XM_011541514.1:c.1124del | XP_011539816.1:p.Pro375HisfsTer? | |
| XM_011541515.1:c.1148del | XP_011539817.1:p.Pro383HisfsTer? | |
| XM_011541512.3:c.1148del | XP_011539814.1:p.Pro383HisfsTer? | |
| XM_011541514.3:c.1124del | XP_011539816.1:p.Pro375HisfsTer? | |
| XM_011541515.3:c.1148del | XP_011539817.1:p.Pro383HisfsTer? | |
| XM_017001362.2:c.1070del | XP_016856851.1:p.Pro357HisfsTer? | |
| XM_017001363.1:c.380del | XP_016856852.1:p.Pro127HisfsTer? | |
| NM_001134673.4:c.1094del MANE Select | NP_001128145.1:p.Pro365HisfsTer? | |
| NM_001145511.2:c.1070del | NP_001138983.1:p.Pro357HisfsTer? | |
| NM_001145512.2:c.1229del | NP_001138984.1:p.Pro410HisfsTer? | |
| NM_005595.5:c.1094del | NP_005586.1:p.Pro365HisfsTer? |