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_000005.10:g.112826771_112826772delinsTG , CM000667.2:g.112826771_112826772delinsTG | GRCh38 |
| NC_000005.9:g.112162468_112162469delinsTG , CM000667.1:g.112162468_112162469delinsTG | GRCh37 |
| NC_000005.8:g.112190367_112190368delinsTG | NCBI36 |
| NG_008481.4:g.139251_139252delinsTG , LRG_130:g.139251_139252delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1408+4780_1408+4781delinsTG | ENSP00000484935.2:n.1408+4780_1408+4781de... | |
| ENST00000504915.3:c.1463-337_1463-336delinsTG | ENSP00000473355.2:n.1463-337_1463-336deli... | |
| ENST00000505084.2:n.1465-337_1465-336delinsTG | ||
| ENST00000505350.2:c.*1415-337_*1415-336delinsTG | ENSP00000481752.1:n.*1415-337_*1415-336de... | |
| ENST00000507379.6:c.1355-337_1355-336delinsTG | ENSP00000423224.2:n.1355-337_1355-336deli... | |
| ENST00000509732.6:c.1409-337_1409-336delinsTG | ENSP00000426541.2:n.1409-337_1409-336deli... | |
| ENST00000512211.7:c.1409-337_1409-336delinsTG | ENSP00000423828.3:n.1409-337_1409-336deli... | |
| ENST00000257430.9:c.1409-337_1409-336delinsTG MANE Select | ENSP00000257430.4:n.1409-337_1409-336deli... | |
| ENST00000257430.8:c.1409-337_1409-336delinsTG | ENSP00000257430.4:n.1409-337_1409-336deli... | |
| ENST00000502371.2:c.96+4780_96+4781delinsTG | ||
| ENST00000504915.2:c.98-337_98-336delinsTG | ENSP00000473355.1:n.98-337_98-336delinsTG... | |
| ENST00000507379.5:c.1355-337_1355-336delinsTG | ENSP00000423224.1:n.1355-337_1355-336deli... | |
| ENST00000508376.6:c.1409-337_1409-336delinsTG | ENSP00000427089.2:n.1409-337_1409-336deli... | |
| ENST00000508624.5:c.*731-337_*731-336delinsTG | ENSP00000424265.1:n.*731-337_*731-336deli... | |
| ENST00000512211.6:c.1409-337_1409-336delinsTG | ENSP00000423828.2:n.1409-337_1409-336deli... | |
| NM_000038.5:c.1409-337_1409-336delinsTG | NP_000029.2:n.1409-337_1409-336delinsTG | |
| NM_001127510.2:c.1409-337_1409-336delinsTG | NP_001120982.1:n.1409-337_1409-336delinsT... | |
| NM_001127511.2:c.1355-337_1355-336delinsTG | NP_001120983.2:n.1355-337_1355-336delinsT... | |
| NM_001354895.1:c.1409-337_1409-336delinsTG | NP_001341824.1:n.1409-337_1409-336delinsT... | |
| NM_001354896.1:c.1463-337_1463-336delinsTG | NP_001341825.1:n.1463-337_1463-336delinsT... | |
| NM_001354897.1:c.1439-337_1439-336delinsTG | NP_001341826.1:n.1439-337_1439-336delinsT... | |
| NM_001354898.1:c.1334-337_1334-336delinsTG | NP_001341827.1:n.1334-337_1334-336delinsT... | |
| NM_001354899.1:c.1325-337_1325-336delinsTG | NP_001341828.1:n.1325-337_1325-336delinsT... | |
| NM_001354900.1:c.1286-337_1286-336delinsTG | NP_001341829.1:n.1286-337_1286-336delinsT... | |
| NM_001354901.1:c.1232-337_1232-336delinsTG | NP_001341830.1:n.1232-337_1232-336delinsT... | |
| NM_001354902.1:c.1136-337_1136-336delinsTG | NP_001341831.1:n.1136-337_1136-336delinsT... | |
| NM_001354903.1:c.1106-337_1106-336delinsTG | NP_001341832.1:n.1106-337_1106-336delinsT... | |
| NM_001354904.1:c.1031-337_1031-336delinsTG | NP_001341833.1:n.1031-337_1031-336delinsT... | |
| NM_001354905.1:c.929-337_929-336delinsTG | NP_001341834.1:n.929-337_929-336delinsTG | |
| NM_001354906.1:c.560-337_560-336delinsTG | NP_001341835.1:n.560-337_560-336delinsTG | |
| NM_000038.6:c.1409-337_1409-336delinsTG MANE Select | NP_000029.2:n.1409-337_1409-336delinsTG | |
| NM_001127510.3:c.1409-337_1409-336delinsTG | NP_001120982.1:n.1409-337_1409-336delinsT... | |
| NM_001127511.3:c.1355-337_1355-336delinsTG | NP_001120983.2:n.1355-337_1355-336delinsT... | |
| NM_001354895.2:c.1409-337_1409-336delinsTG | NP_001341824.1:n.1409-337_1409-336delinsT... | |
| NM_001354896.2:c.1463-337_1463-336delinsTG | NP_001341825.1:n.1463-337_1463-336delinsT... | |
| NM_001354897.2:c.1439-337_1439-336delinsTG | NP_001341826.1:n.1439-337_1439-336delinsT... | |
| NM_001354898.2:c.1334-337_1334-336delinsTG | NP_001341827.1:n.1334-337_1334-336delinsT... | |
| NM_001354899.2:c.1325-337_1325-336delinsTG | NP_001341828.1:n.1325-337_1325-336delinsT... | |
| NM_001354900.2:c.1286-337_1286-336delinsTG | NP_001341829.1:n.1286-337_1286-336delinsT... | |
| NM_001354901.2:c.1232-337_1232-336delinsTG | NP_001341830.1:n.1232-337_1232-336delinsT... | |
| NM_001354902.2:c.1136-337_1136-336delinsTG | NP_001341831.1:n.1136-337_1136-336delinsT... | |
| NM_001354903.2:c.1106-337_1106-336delinsTG | NP_001341832.1:n.1106-337_1106-336delinsT... | |
| NM_001354904.2:c.1031-337_1031-336delinsTG | NP_001341833.1:n.1031-337_1031-336delinsT... | |
| NM_001354905.2:c.929-337_929-336delinsTG | NP_001341834.1:n.929-337_929-336delinsTG | |
| NM_001354906.2:c.560-337_560-336delinsTG | NP_001341835.1:n.560-337_560-336delinsTG |