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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189813853_189813854delinsTC , CM000664.2:g.189813853_189813854delinsTC | GRCh38 |
| NC_000002.11:g.190678579_190678580delinsTC , CM000664.1:g.190678579_190678580delinsTC | GRCh37 |
| NC_000002.10:g.190386824_190386825delinsTC | NCBI36 |
| NG_008648.1:g.34769_34770delinsTC , LRG_221:g.34769_34770delinsTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441310.7:c.419-4164_419-4163delinsTC MANE Select | ENSP00000406490.3:n.419-4164_419-4163deli... | |
| ENST00000639501.1:c.419-4164_419-4163delinsTC | ENSP00000491236.1:n.419-4164_419-4163deli... | |
| ENST00000342075.8:c.316-4164_316-4163delinsTC | ENSP00000343888.4:n.316-4164_316-4163deli... | |
| ENST00000409823.7:c.419-4164_419-4163delinsTC | ENSP00000387125.3:n.419-4164_419-4163deli... | |
| ENST00000418224.7:c.419-4164_419-4163delinsTC | ENSP00000404492.4:n.419-4164_419-4163deli... | |
| ENST00000421722.5:n.505-4164_505-4163delinsTC | ||
| ENST00000424059.1:n.419-4164_419-4163delinsTC | ||
| ENST00000424307.5:c.236-4164_236-4163delinsTC | ENSP00000389938.1:n.236-4164_236-4163deli... | |
| ENST00000424766.5:c.419-4164_419-4163delinsTC | ENSP00000410082.1:n.419-4164_419-4163deli... | |
| ENST00000432292.7:c.-110-4164_-110-4163delinsTC | ENSP00000398378.3:n.-110-4164_-110-4163de... | |
| ENST00000441310.6:c.419-4164_419-4163delinsTC | ENSP00000406490.2:n.419-4164_419-4163deli... | |
| ENST00000447232.6:c.419-4164_419-4163delinsTC | ENSP00000401064.2:n.419-4164_419-4163deli... | |
| ENST00000447734.5:c.133-4164_133-4163delinsTC | ENSP00000411151.1:n.133-4164_133-4163deli... | |
| ENST00000450931.5:c.419-4164_419-4163delinsTC | ENSP00000406225.1:n.419-4164_419-4163deli... | |
| ENST00000618056.4:c.419-4164_419-4163delinsTC | ENSP00000480632.1:n.419-4164_419-4163deli... | |
| ENST00000624204.3:c.-110-4164_-110-4163delinsTC | ENSP00000485312.1:n.-110-4164_-110-4163de... | |
| NM_000534.4:c.419-4164_419-4163delinsTC , LRG_221t1:c.419-4164_419-4163delinsTC | NP_000525.1:n.419-4164_419-4163delinsTC | |
| NM_001128143.1:c.419-4164_419-4163delinsTC | NP_001121615.1:n.419-4164_419-4163delinsT... | |
| NM_001128144.1:c.419-4164_419-4163delinsTC | NP_001121616.1:n.419-4164_419-4163delinsT... | |
| NM_001289408.1:c.-110-4164_-110-4163delinsTC | NP_001276337.1:n.-110-4164_-110-4163delin... | |
| NM_001289409.1:c.-110-4164_-110-4163delinsTC | NP_001276338.1:n.-110-4164_-110-4163delin... | |
| NR_110332.1:n.1045-4164_1045-4163delinsTC | ||
| XM_005246647.2:c.419-4164_419-4163delinsTC | XP_005246704.1:n.419-4164_419-4163delinsT... | |
| XM_005246649.2:c.419-4164_419-4163delinsTC | XP_005246706.1:n.419-4164_419-4163delinsT... | |
| XM_011511353.1:c.419-4164_419-4163delinsTC | XP_011509655.1:n.419-4164_419-4163delinsT... | |
| XM_011511354.1:c.419-4164_419-4163delinsTC | XP_011509656.1:n.419-4164_419-4163delinsT... | |
| XM_011511355.1:c.236-4164_236-4163delinsTC | XP_011509657.1:n.236-4164_236-4163delinsT... | |
| XM_011511356.1:c.-111+1218_-111+1219delinsTC | XP_011509658.1:n.-111+1218_-111+1219delin... | |
| XM_011511357.1:c.419-4164_419-4163delinsTC | XP_011509659.1:n.419-4164_419-4163delinsT... | |
| XR_922951.1:n.583-4164_583-4163delinsTC | ||
| NM_001321044.1:c.419-4164_419-4163delinsTC | NP_001307973.1:n.419-4164_419-4163delinsT... | |
| NM_001321045.1:c.419-4164_419-4163delinsTC | NP_001307974.1:n.419-4164_419-4163delinsT... | |
| NM_001321046.1:c.236-4164_236-4163delinsTC | NP_001307975.1:n.236-4164_236-4163delinsT... | |
| NM_001321047.1:c.419-4164_419-4163delinsTC | NP_001307976.1:n.419-4164_419-4163delinsT... | |
| NM_001321048.1:c.419-4164_419-4163delinsTC | NP_001307977.1:n.419-4164_419-4163delinsT... | |
| XM_011511356.3:c.-111+1218_-111+1219delinsTC | XP_011509658.1:n.-111+1218_-111+1219delin... | |
| XM_017004344.1:c.419-4164_419-4163delinsTC | XP_016859833.1:n.419-4164_419-4163delinsT... | |
| XM_017004345.1:c.236-4164_236-4163delinsTC | XP_016859834.1:n.236-4164_236-4163delinsT... | |
| XM_017004346.2:c.236-4164_236-4163delinsTC | XP_016859835.1:n.236-4164_236-4163delinsT... | |
| XM_017004347.1:c.236-4164_236-4163delinsTC | XP_016859836.1:n.236-4164_236-4163delinsT... | |
| XM_017004348.1:c.419-4164_419-4163delinsTC | XP_016859837.1:n.419-4164_419-4163delinsT... | |
| XM_017004349.2:c.-111+1218_-111+1219delinsTC | XP_016859838.1:n.-111+1218_-111+1219delin... | |
| XM_017004350.1:c.236-4164_236-4163delinsTC | XP_016859839.1:n.236-4164_236-4163delinsT... | |
| XM_024452964.1:c.419-4164_419-4163delinsTC | XP_024308732.1:n.419-4164_419-4163delinsT... | |
| XM_024452965.1:c.419-4164_419-4163delinsTC | XP_024308733.1:n.419-4164_419-4163delinsT... | |
| XM_024452966.1:c.419-4164_419-4163delinsTC | XP_024308734.1:n.419-4164_419-4163delinsT... | |
| XM_024452967.1:c.419-4164_419-4163delinsTC | XP_024308735.1:n.419-4164_419-4163delinsT... | |
| XM_024452968.1:c.-110-4164_-110-4163delinsTC | XP_024308736.1:n.-110-4164_-110-4163delin... | |
| XM_024452969.1:c.-110-4164_-110-4163delinsTC | XP_024308737.1:n.-110-4164_-110-4163delin... | |
| XR_001738779.1:n.674-4164_674-4163delinsTC | ||
| XR_002959307.1:n.679-4164_679-4163delinsTC | ||
| XR_922951.2:n.577-4164_577-4163delinsTC | ||
| NM_000534.5:c.419-4164_419-4163delinsTC MANE Select | NP_000525.1:n.419-4164_419-4163delinsTC | |
| NM_001128143.2:c.419-4164_419-4163delinsTC | NP_001121615.1:n.419-4164_419-4163delinsT... | |
| NM_001128144.2:c.419-4164_419-4163delinsTC | NP_001121616.1:n.419-4164_419-4163delinsT... | |
| NM_001321044.2:c.419-4164_419-4163delinsTC | NP_001307973.1:n.419-4164_419-4163delinsT... | |
| NM_001321045.2:c.419-4164_419-4163delinsTC | NP_001307974.1:n.419-4164_419-4163delinsT... | |
| NM_001321046.2:c.236-4164_236-4163delinsTC | NP_001307975.1:n.236-4164_236-4163delinsT... | |
| NM_001321047.2:c.419-4164_419-4163delinsTC | NP_001307976.1:n.419-4164_419-4163delinsT... | |
| NM_001321048.2:c.419-4164_419-4163delinsTC | NP_001307977.1:n.419-4164_419-4163delinsT... | |
| NR_110332.2:n.680-4164_680-4163delinsTC | ||
| NM_001289408.2:c.-110-4164_-110-4163delinsTC | NP_001276337.1:n.-110-4164_-110-4163delin... | |
| NM_001289409.2:c.-110-4164_-110-4163delinsTC | NP_001276338.1:n.-110-4164_-110-4163delin... |