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:
140889
ClinVar RCV Id:
RCV000129125
RCV000169588
RCV000236583
RCV002285143
RCV002288622
RCV003492585
RCV003925273
dbSNP Id:
rs587781347
ExAC:
11:108121593 CAA / C
gnomAD v2:
11-108121593-CAA-C
gnomAD v3:
11-108250866-CAA-C
gnomAD v4:
11-108250866-CAA-C
CIViC:
CA163840
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108250867_108250868del , CM000673.2:g.108250867_108250868del | GRCh38 |
| NC_000011.9:g.108121594_108121595del , CM000673.1:g.108121594_108121595del | GRCh37 |
| NC_000011.8:g.107626804_107626805del | NCBI36 |
| NG_009830.1:g.33036_33037del , LRG_135:g.33036_33037del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452508.7:c.1402_1403del | ENSP00000388058.2:p.Lys468GlufsTer18 | |
| ENST00000713593.1:c.*873_*874del | ENSP00000518889.1:n.*873_*874del | |
| ENST00000278616.9:c.1402_1403del | ENSP00000278616.4:p.Lys468GlufsTer18 | |
| ENST00000682516.1:n.1536_1537del | ||
| ENST00000682956.1:n.1536_1537del | ||
| ENST00000683174.1:n.1552_1553del | ||
| ENST00000683605.1:n.897_898del | ||
| ENST00000684037.1:c.*337_*338del | ENSP00000508245.1:n.*337_*338del | |
| ENST00000684061.1:n.1536_1537del | ||
| ENST00000684179.1:n.1371_1372del | ||
| ENST00000527805.6:c.1402_1403del | ENSP00000435747.2:p.Lys468GlufsTer18 | |
| ENST00000675595.1:c.1237_1238del | ENSP00000502563.1:p.Lys413GlufsTer18 | |
| ENST00000675843.1:c.1402_1403del MANE Select | ENSP00000501606.1:p.Lys468GlufsTer18 | |
| ENST00000278616.8:c.1402_1403del | ENSP00000278616.4:p.Lys468GlufsTer18 | |
| ENST00000452508.6:c.1402_1403del | ENSP00000388058.2:p.Lys468GlufsTer18 | |
| ENST00000527805.5:c.1402_1403del | ENSP00000435747.1:p.Lys468GlufsTer18 | |
| NM_000051.3:c.1402_1403del , LRG_135t1:c.1402_1403del | NP_000042.3:p.Lys468GlufsTer18 | |
| XM_005271561.3:c.1402_1403del | XP_005271618.2:p.Lys468GlufsTer18 | |
| XM_005271562.3:c.1402_1403del | XP_005271619.2:p.Lys468GlufsTer18 | |
| XM_006718843.2:c.1402_1403del | XP_006718906.1:p.Lys468GlufsTer18 | |
| XM_011542840.1:c.1402_1403del | XP_011541142.1:p.Lys468GlufsTer18 | |
| XM_011542841.1:c.1402_1403del | XP_011541143.1:p.Lys468GlufsTer18 | |
| XM_011542842.1:c.1237_1238del | XP_011541144.1:p.Lys413GlufsTer18 | |
| XM_011542843.1:c.1402_1403del | XP_011541145.1:p.Lys468GlufsTer18 | |
| XM_011542844.1:c.358_359del | XP_011541146.1:p.Lys120GlufsTer18 | |
| XM_011542845.1:c.94_95del | XP_011541147.1:p.Lys32GlufsTer18 | |
| XM_011542846.1:c.1402_1403del | XP_011541148.1:p.Lys468GlufsTer18 | |
| NM_001351834.1:c.1402_1403del | NP_001338763.1:p.Lys468GlufsTer18 | |
| XM_005271562.5:c.1402_1403del | XP_005271619.2:p.Lys468GlufsTer18 | |
| XM_006718843.4:c.1402_1403del | XP_006718906.1:p.Lys468GlufsTer18 | |
| XM_011542840.3:c.1402_1403del | XP_011541142.1:p.Lys468GlufsTer18 | |
| XM_011542842.3:c.1237_1238del | XP_011541144.1:p.Lys413GlufsTer18 | |
| XM_011542843.2:c.1402_1403del | XP_011541145.1:p.Lys468GlufsTer18 | |
| XM_011542844.3:c.358_359del | XP_011541146.1:p.Lys120GlufsTer18 | |
| XM_011542845.2:c.94_95del | XP_011541147.1:p.Lys32GlufsTer18 | |
| XM_017017789.2:c.1402_1403del | XP_016873278.1:p.Lys468GlufsTer18 | |
| XM_017017790.2:c.1402_1403del | XP_016873279.1:p.Lys468GlufsTer18 | |
| XM_017017791.1:c.1402_1403del | XP_016873280.1:p.Lys468GlufsTer18 | |
| XM_017017792.2:c.1402_1403del | XP_016873281.1:p.Lys468GlufsTer18 | |
| XR_002957150.1:n.2135_2136del | ||
| NM_001351834.2:c.1402_1403del | NP_001338763.1:p.Lys468GlufsTer18 | |
| NM_000051.4:c.1402_1403del MANE Select | NP_000042.3:p.Lys468GlufsTer18 |