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:
192371
ClinVar RCV Id:
RCV003444215
dbSNP Id:
rs876657401
PubMed:
PMID:25865495
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.11031222_11031223del , CM000665.2:g.11031222_11031223del | GRCh38 |
| NC_000003.11:g.11072908_11072909del , CM000665.1:g.11072908_11072909del | GRCh37 |
| NC_000003.10:g.11047908_11047909del | NCBI36 |
| NG_053003.1:g.43494_43495del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698198.1:c.1441_1442del | ENSP00000513602.1:p.Gly481HisfsTer10 | |
| ENST00000287766.10:c.1369_1370del MANE Select | ENSP00000287766.4:p.Gly457HisfsTer10 | |
| ENST00000642201.1:c.1369_1370del | ENSP00000494778.1:p.Gly457HisfsTer10 | |
| ENST00000642515.1:c.1369_1370del | ENSP00000496348.1:p.Gly457HisfsTer10 | |
| ENST00000642639.1:c.1369_1370del | ENSP00000494191.1:p.Gly457HisfsTer10 | |
| ENST00000642735.1:c.1369_1370del | ENSP00000494050.1:p.Gly457HisfsTer10 | |
| ENST00000642767.1:c.1369_1370del | ENSP00000494346.1:p.Gly457HisfsTer10 | |
| ENST00000642820.1:c.1369_1370del | ENSP00000495900.1:p.Gly457HisfsTer10 | |
| ENST00000643396.1:c.1369_1370del | ENSP00000494136.1:p.Gly457HisfsTer10 | |
| ENST00000643498.1:c.1369_1370del | ENSP00000494997.1:p.Gly457HisfsTer10 | |
| ENST00000644314.1:c.1009_1010del | ENSP00000493813.1:p.Gly337HisfsTer10 | |
| ENST00000644803.1:c.1396_1397del | ENSP00000494469.1:p.Gly466HisfsTer10 | |
| ENST00000645029.1:c.1369_1370del | ENSP00000496171.1:p.Gly457HisfsTer10 | |
| ENST00000645054.1:c.1369_1370del | ENSP00000495751.1:p.Gly457HisfsTer10 | |
| ENST00000645281.1:c.835_836del | ENSP00000493746.1:p.Gly279HisfsTer10 | |
| ENST00000645575.1:c.*752_*753del | ENSP00000493666.1:n.*752_*753del | |
| ENST00000645592.1:c.1369_1370del | ENSP00000496619.1:p.Gly457HisfsTer10 | |
| ENST00000645776.1:c.835_836del | ENSP00000495375.1:p.Gly279HisfsTer10 | |
| ENST00000645974.1:c.1369_1370del | ENSP00000496390.1:p.Gly457HisfsTer10 | |
| ENST00000645985.1:c.1163_1164del | ||
| ENST00000646022.1:c.1369_1370del | ENSP00000494134.1:p.Gly457HisfsTer10 | |
| ENST00000646060.1:c.1369_1370del | ENSP00000496302.1:p.Gly457HisfsTer10 | |
| ENST00000646072.1:c.835_836del | ENSP00000494002.1:p.Gly279HisfsTer10 | |
| ENST00000646487.1:c.946_947del | ENSP00000496768.1:p.Gly316HisfsTer10 | |
| ENST00000646570.1:c.1369_1370del | ENSP00000496064.1:p.Gly457HisfsTer10 | |
| ENST00000646702.1:c.1369_1370del | ENSP00000496697.1:p.Gly457HisfsTer10 | |
| ENST00000646836.1:n.422_423del | ||
| ENST00000646886.1:n.3737_3738del | ||
| ENST00000646924.1:c.1369_1370del | ENSP00000493591.1:p.Gly457HisfsTer10 | |
| ENST00000647194.1:c.1369_1370del | ENSP00000496238.1:p.Gly457HisfsTer10 | |
| ENST00000647384.1:c.1078+4863_1078+4864del | ENSP00000493779.1:n.1078+4863_1078+4864de... | |
| ENST00000287766.8:c.1369_1370del | ENSP00000287766.4:p.Gly457HisfsTer10 | |
| NM_003042.3:c.1369_1370del | NP_003033.3:p.Gly457HisfsTer10 | |
| XM_005265410.3:c.1369_1370del | XP_005265467.1:p.Gly457HisfsTer10 | |
| XM_005265411.3:c.1369_1370del | XP_005265468.1:p.Gly457HisfsTer10 | |
| XM_006713306.2:c.1369_1370del | XP_006713369.1:p.Gly457HisfsTer10 | |
| XM_011534025.1:c.1369_1370del | XP_011532327.1:p.Gly457HisfsTer10 | |
| XM_011534026.1:c.1369_1370del | XP_011532328.1:p.Gly457HisfsTer10 | |
| XM_011534027.1:c.1369_1370del | XP_011532329.1:p.Gly457HisfsTer10 | |
| XM_011534028.1:c.1369_1370del | XP_011532330.1:p.Gly457HisfsTer10 | |
| NM_001348250.1:c.1369_1370del | NP_001335179.1:p.Gly457HisfsTer10 | |
| NM_001348251.1:c.1009_1010del | NP_001335180.1:p.Gly337HisfsTer10 | |
| NM_001348252.1:c.835_836del | NP_001335181.1:p.Gly279HisfsTer10 | |
| NM_001348253.1:c.835_836del | NP_001335182.1:p.Gly279HisfsTer10 | |
| XM_005265410.5:c.1369_1370del | XP_005265467.1:p.Gly457HisfsTer10 | |
| XM_005265411.5:c.1369_1370del | XP_005265468.1:p.Gly457HisfsTer10 | |
| XM_011534025.3:c.1369_1370del | XP_011532327.1:p.Gly457HisfsTer10 | |
| XM_011534027.3:c.1369_1370del | XP_011532329.1:p.Gly457HisfsTer10 | |
| XM_017007071.2:c.1369_1370del | XP_016862560.1:p.Gly457HisfsTer10 | |
| XM_017007072.2:c.1369_1370del | XP_016862561.1:p.Gly457HisfsTer10 | |
| NM_003042.4:c.1369_1370del MANE Select | NP_003033.3:p.Gly457HisfsTer10 | |
| NM_001348250.2:c.1369_1370del | NP_001335179.1:p.Gly457HisfsTer10 | |
| NM_001348251.2:c.1009_1010del | NP_001335180.1:p.Gly337HisfsTer10 | |
| NM_001348252.2:c.835_836del | NP_001335181.1:p.Gly279HisfsTer10 | |
| NM_001348253.2:c.835_836del | NP_001335182.1:p.Gly279HisfsTer10 |