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:
36971
ClinVar RCV Id:
RCV000030649
dbSNP Id:
rs397514486
gnomAD v4:
12-66455422-GTCTT-G
PubMed:
PMID:22510445
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66455428_66455431del , CM000674.2:g.66455428_66455431del | GRCh38 |
| NC_000012.11:g.66849208_66849211del , CM000674.1:g.66849208_66849211del | GRCh37 |
| NC_000012.10:g.65135475_65135478del | NCBI36 |
| NG_021400.1:g.228720_228723del | |
| NG_021400.2:g.618840_618843del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696989.1:c.1406_1409del | ENSP00000513025.1:p.Lys469ThrfsTer8 | |
| ENST00000359742.9:c.1337_1340del MANE Select | ENSP00000352780.4:p.Lys446ThrfsTer8 | |
| ENST00000359742.8:c.1337_1340del | ENSP00000352780.4:p.Lys446ThrfsTer8 | |
| ENST00000398016.7:c.1181_1184del | ENSP00000381098.3:p.Lys394ThrfsTer8 | |
| ENST00000535002.1:c.443_446del | ||
| ENST00000536215.5:c.874+7498_874+7501del | ENSP00000446011.1:n.874+7498_874+7501del | |
| ENST00000538164.5:c.781_784del | ||
| ENST00000538211.5:c.1181_1184del | ENSP00000446047.1:p.Lys394ThrfsTer8 | |
| ENST00000540433.5:c.1013_1016del | ENSP00000446024.1:p.Lys338ThrfsTer8 | |
| ENST00000540854.5:c.337+60193_337+60196del | ENSP00000443006.1:n.337+60193_337+60196de... | |
| ENST00000543172.5:c.639_642del | ||
| NM_001178074.1:c.1181_1184del | NP_001171545.1:p.Lys394ThrfsTer8 | |
| NM_021150.3:c.1181_1184del | NP_066973.2:p.Lys394ThrfsTer8 | |
| XM_005268754.3:c.1340_1343del | XP_005268811.1:p.Lys447ThrfsTer8 | |
| XM_005268757.3:c.1259_1262del | XP_005268814.1:p.Lys420ThrfsTer8 | |
| XM_011538089.1:c.1562_1565del | XP_011536391.1:p.Lys521ThrfsTer8 | |
| XM_011538090.1:c.1562_1565del | XP_011536392.1:p.Lys521ThrfsTer8 | |
| XM_011538091.1:c.1406_1409del | XP_011536393.1:p.Lys469ThrfsTer8 | |
| XM_011538092.1:c.1406_1409del | XP_011536394.1:p.Lys469ThrfsTer8 | |
| XM_011538093.1:c.1337_1340del | XP_011536395.1:p.Lys446ThrfsTer8 | |
| XM_011538094.1:c.1169_1172del | XP_011536396.1:p.Lys390ThrfsTer8 | |
| NM_001366722.1:c.1337_1340del MANE Select | NP_001353651.1:p.Lys446ThrfsTer8 | |
| NM_001366723.1:c.1256_1259del | NP_001353652.1:p.Lys419ThrfsTer8 | |
| NM_001366724.1:c.1259_1262del | NP_001353653.1:p.Lys420ThrfsTer8 | |
| XM_005268754.4:c.1340_1343del | XP_005268811.1:p.Lys447ThrfsTer8 | |
| XM_005268757.4:c.1259_1262del | XP_005268814.1:p.Lys420ThrfsTer8 | |
| XM_017019098.1:c.1562_1565del | XP_016874587.1:p.Lys521ThrfsTer8 | |
| XM_017019099.1:c.1415_1418del | XP_016874588.1:p.Lys472ThrfsTer8 | |
| XM_017019100.1:c.1406_1409del | XP_016874589.1:p.Lys469ThrfsTer8 | |
| NM_001178074.2:c.1181_1184del | NP_001171545.1:p.Lys394ThrfsTer8 | |
| NM_021150.4:c.1181_1184del | NP_066973.2:p.Lys394ThrfsTer8 | |
| NM_001379345.1:c.1415_1418del | NP_001366274.1:p.Lys472ThrfsTer8 | |
| NM_001379346.1:c.1337_1340del | NP_001366275.1:p.Lys446ThrfsTer8 | |
| NM_001379347.1:c.1259_1262del | NP_001366276.1:p.Lys420ThrfsTer8 | |
| NM_001379348.1:c.1256_1259del | NP_001366277.1:p.Lys419ThrfsTer8 | |
| NM_001379349.1:c.1184_1187del | NP_001366278.1:p.Lys395ThrfsTer8 | |
| NM_001379351.1:c.1181_1184del | NP_001366280.1:p.Lys394ThrfsTer8 |