UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13713479_13713483delinsACTTC , CM000672.2:g.13713479_13713483delinsACTTC | GRCh38 |
| NC_000010.10:g.13755479_13755483delinsACTTC , CM000672.1:g.13755479_13755483delinsACTTC | GRCh37 |
| NC_000010.9:g.13795485_13795489delinsACTTC | NCBI36 |
| NG_047164.1:g.622385_622389delinsGAAGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000495956.3:c.760-6370_760-6366delinsGAAGT | ENSP00000488764.2:n.760-6370_760-6366deli... | |
| ENST00000357447.7:c.760-6370_760-6366delinsGAAGT MANE Select | ENSP00000350032.2:n.760-6370_760-6366deli... | |
| ENST00000264546.10:c.859-6370_859-6366delinsGAAGT | ENSP00000264546.6:n.859-6370_859-6366deli... | |
| ENST00000342409.3:n.1189-6370_1189-6366delinsGAAGT | ||
| ENST00000357447.6:c.760-6370_760-6366delinsGAAGT | ENSP00000350032.2:n.760-6370_760-6366deli... | |
| ENST00000358621.8:c.715-6370_715-6366delinsGAAGT | ENSP00000351438.4:n.715-6370_715-6366deli... | |
| NM_018027.3:c.760-6370_760-6366delinsGAAGT | NP_060497.3:n.760-6370_760-6366delinsGAAG... | |
| XM_005252489.2:c.859-6370_859-6366delinsGAAGT | XP_005252546.1:n.859-6370_859-6366delinsG... | |
| XM_005252490.2:c.808-6370_808-6366delinsGAAGT | XP_005252547.1:n.808-6370_808-6366delinsG... | |
| XM_006717457.2:c.904-6370_904-6366delinsGAAGT | XP_006717520.1:n.904-6370_904-6366delinsG... | |
| XM_006717458.2:c.904-6370_904-6366delinsGAAGT | XP_006717521.1:n.904-6370_904-6366delinsG... | |
| XM_006717459.2:c.904-6370_904-6366delinsGAAGT | XP_006717522.1:n.904-6370_904-6366delinsG... | |
| XM_006717460.2:c.859-6370_859-6366delinsGAAGT | XP_006717523.1:n.859-6370_859-6366delinsG... | |
| XM_006717461.1:c.859-6370_859-6366delinsGAAGT | XP_006717524.1:n.859-6370_859-6366delinsG... | |
| XM_006717462.2:c.760-6370_760-6366delinsGAAGT | XP_006717525.1:n.760-6370_760-6366delinsG... | |
| XM_011519539.1:c.853-6370_853-6366delinsGAAGT | XP_011517841.1:n.853-6370_853-6366delinsG... | |
| XM_011519540.1:c.904-6370_904-6366delinsGAAGT | XP_011517842.1:n.904-6370_904-6366delinsG... | |
| XM_011519541.1:c.904-6370_904-6366delinsGAAGT | XP_011517843.1:n.904-6370_904-6366delinsG... | |
| XM_011519542.1:c.775-6370_775-6366delinsGAAGT | XP_011517844.1:n.775-6370_775-6366delinsG... | |
| XM_011519543.1:c.760-6370_760-6366delinsGAAGT | XP_011517845.1:n.760-6370_760-6366delinsG... | |
| XM_011519544.1:c.760-6370_760-6366delinsGAAGT | XP_011517846.1:n.760-6370_760-6366delinsG... | |
| XM_011519545.1:c.760-6370_760-6366delinsGAAGT | XP_011517847.1:n.760-6370_760-6366delinsG... | |
| XM_011519546.1:c.760-6370_760-6366delinsGAAGT | XP_011517848.1:n.760-6370_760-6366delinsG... | |
| XR_930686.1:n.730+1465_730+1469delinsACTTC | ||
| NM_001318336.1:c.808-6370_808-6366delinsGAAGT | NP_001305265.1:n.808-6370_808-6366delinsG... | |
| NM_001318337.1:c.859-6370_859-6366delinsGAAGT | NP_001305266.1:n.859-6370_859-6366delinsG... | |
| NM_018027.4:c.760-6370_760-6366delinsGAAGT | NP_060497.3:n.760-6370_760-6366delinsGAAG... | |
| XM_005252489.3:c.859-6370_859-6366delinsGAAGT | XP_005252546.1:n.859-6370_859-6366delinsG... | |
| XM_005252490.3:c.808-6370_808-6366delinsGAAGT | XP_005252547.1:n.808-6370_808-6366delinsG... | |
| XM_006717457.3:c.904-6370_904-6366delinsGAAGT | XP_006717520.1:n.904-6370_904-6366delinsG... | |
| XM_006717458.4:c.904-6370_904-6366delinsGAAGT | XP_006717521.1:n.904-6370_904-6366delinsG... | |
| XM_006717459.3:c.904-6370_904-6366delinsGAAGT | XP_006717522.1:n.904-6370_904-6366delinsG... | |
| XM_006717460.3:c.859-6370_859-6366delinsGAAGT | XP_006717523.1:n.859-6370_859-6366delinsG... | |
| XM_011519539.2:c.853-6370_853-6366delinsGAAGT | XP_011517841.1:n.853-6370_853-6366delinsG... | |
| XM_011519540.2:c.904-6370_904-6366delinsGAAGT | XP_011517842.1:n.904-6370_904-6366delinsG... | |
| XM_011519541.2:c.904-6370_904-6366delinsGAAGT | XP_011517843.1:n.904-6370_904-6366delinsG... | |
| XM_011519543.3:c.760-6370_760-6366delinsGAAGT | XP_011517845.1:n.760-6370_760-6366delinsG... | |
| XM_017016393.2:c.904-6370_904-6366delinsGAAGT | XP_016871882.1:n.904-6370_904-6366delinsG... | |
| XM_017016394.2:c.760-6370_760-6366delinsGAAGT | XP_016871883.1:n.760-6370_760-6366delinsG... | |
| XM_017016395.2:c.748-6370_748-6366delinsGAAGT | XP_016871884.1:n.748-6370_748-6366delinsG... | |
| XM_024448067.1:c.826-6370_826-6366delinsGAAGT | XP_024303835.1:n.826-6370_826-6366delinsG... | |
| XM_024448068.1:c.793-6370_793-6366delinsGAAGT | XP_024303836.1:n.793-6370_793-6366delinsG... | |
| XM_024448069.1:c.760-6370_760-6366delinsGAAGT | XP_024303837.1:n.760-6370_760-6366delinsG... | |
| XM_024448070.1:c.760-6370_760-6366delinsGAAGT | XP_024303838.1:n.760-6370_760-6366delinsG... | |
| XM_024448071.1:c.748-6370_748-6366delinsGAAGT | XP_024303839.1:n.748-6370_748-6366delinsG... | |
| XR_001747370.1:n.217+1465_217+1469delinsACTTC | ||
| XR_001747371.1:n.743+1465_743+1469delinsACTTC | ||
| NM_018027.5:c.760-6370_760-6366delinsGAAGT MANE Select | NP_060497.3:n.760-6370_760-6366delinsGAAG... | |
| NM_001318336.2:c.808-6370_808-6366delinsGAAGT | NP_001305265.1:n.808-6370_808-6366delinsG... | |
| NM_001318337.2:c.859-6370_859-6366delinsGAAGT | NP_001305266.1:n.859-6370_859-6366delinsG... |