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.
Linked Data
gnomAD v4:
2-241751142-G-GAAAGATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241751144_241751150dup , CM000664.2:g.241751144_241751150dup | GRCh38 |
| NC_000002.11:g.242690559_242690565dup , CM000664.1:g.242690559_242690565dup | GRCh37 |
| NC_000002.10:g.242339232_242339238dup | NCBI36 |
| NG_012012.1:g.21530_21536dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.998-102_998-96dup MANE Select | ENSP00000315351.4:n.998-102_998-96dup | |
| ENST00000321264.8:c.998-102_998-96dup | ENSP00000315351.4:n.998-102_998-96dup | |
| ENST00000400769.6:c.854-4705_854-4699dup | ENSP00000383580.2:n.854-4705_854-4699dup | |
| ENST00000403782.5:c.596-102_596-96dup | ENSP00000384723.1:n.596-102_596-96dup | |
| ENST00000432449.1:c.258-102_258-96dup | ||
| ENST00000436747.5:c.*1314-102_*1314-96dup | ENSP00000400212.1:n.*1314-102_*1314-96dup | |
| ENST00000454048.1:c.101-102_101-96dup | ENSP00000404596.1:n.101-102_101-96dup | |
| ENST00000467427.5:n.389+850_389+856dup | ||
| ENST00000470343.5:n.479-102_479-96dup | ||
| ENST00000473126.1:n.197-102_197-96dup | ||
| ENST00000486953.5:n.163+850_163+856dup | ||
| ENST00000496252.5:n.353-102_353-96dup | ||
| NM_001287249.1:c.596-102_596-96dup | NP_001274178.1:n.596-102_596-96dup | |
| NM_152783.4:c.998-102_998-96dup | NP_689996.4:n.998-102_998-96dup | |
| NR_109778.1:n.1063-4705_1063-4699dup | ||
| XM_011511734.1:c.1076-102_1076-96dup | XP_011510036.1:n.1076-102_1076-96dup | |
| XM_011511735.1:c.1076-102_1076-96dup | XP_011510037.1:n.1076-102_1076-96dup | |
| XM_011511736.1:c.998-102_998-96dup | XP_011510038.1:n.998-102_998-96dup | |
| XM_011511737.1:c.1076-102_1076-96dup | XP_011510039.1:n.1076-102_1076-96dup | |
| XM_011511742.1:c.1213-102_1213-96dup | XP_011510044.1:n.1213-102_1213-96dup | |
| XM_011511743.1:c.1213-102_1213-96dup | XP_011510045.1:n.1213-102_1213-96dup | |
| XM_011511744.1:c.1213-102_1213-96dup | XP_011510046.1:n.1213-102_1213-96dup | |
| XM_011511745.1:c.1076-102_1076-96dup | XP_011510047.1:n.1076-102_1076-96dup | |
| XM_011511748.1:c.1147-102_1147-96dup | XP_011510050.1:n.1147-102_1147-96dup | |
| XM_011511749.1:c.1179+850_1179+856dup | XP_011510051.1:n.1179+850_1179+856dup | |
| XM_011511750.1:c.1076-102_1076-96dup | XP_011510052.1:n.1076-102_1076-96dup | |
| XM_011511751.1:c.1212+565_1212+571dup | XP_011510053.1:n.1212+565_1212+571dup | |
| XM_011511753.1:c.1075+850_1075+856dup | XP_011510055.1:n.1075+850_1075+856dup | |
| XM_011511754.1:c.515-102_515-96dup | XP_011510056.1:n.515-102_515-96dup | |
| XM_011511755.1:c.506-102_506-96dup | XP_011510057.1:n.506-102_506-96dup | |
| XM_011511756.1:c.853+6267_853+6273dup | XP_011510058.1:n.853+6267_853+6273dup | |
| XM_011511757.1:c.*14-102_*14-96dup | XP_011510059.1:n.*14-102_*14-96dup | |
| XR_241434.3:n.1337-102_1337-96dup | ||
| XR_923003.1:n.1859-102_1859-96dup | ||
| XR_923004.1:n.1630-102_1630-96dup | ||
| XR_923005.1:n.1373-102_1373-96dup | ||
| XR_923006.1:n.1373-102_1373-96dup | ||
| XR_923007.1:n.1340-102_1340-96dup | ||
| XR_923008.1:n.1236-102_1236-96dup | ||
| XR_923009.1:n.1236-102_1236-96dup | ||
| XR_923010.1:n.1670-102_1670-96dup | ||
| XR_923011.1:n.1441-102_1441-96dup | ||
| XR_923012.1:n.1375-102_1375-96dup | ||
| XR_923014.1:n.1014-4705_1014-4699dup | ||
| NM_001352824.1:c.437-102_437-96dup | NP_001339753.1:n.437-102_437-96dup | |
| XM_011511734.2:c.1076-102_1076-96dup | XP_011510036.1:n.1076-102_1076-96dup | |
| XM_011511735.2:c.1076-102_1076-96dup | XP_011510037.1:n.1076-102_1076-96dup | |
| XM_011511736.2:c.998-102_998-96dup | XP_011510038.1:n.998-102_998-96dup | |
| XM_011511737.3:c.1076-102_1076-96dup | XP_011510039.1:n.1076-102_1076-96dup | |
| XM_011511743.2:c.1213-102_1213-96dup | XP_011510045.1:n.1213-102_1213-96dup | |
| XM_011511744.2:c.1213-102_1213-96dup | XP_011510046.1:n.1213-102_1213-96dup | |
| XM_011511745.3:c.1076-102_1076-96dup | XP_011510047.1:n.1076-102_1076-96dup | |
| XM_011511749.3:c.1179+850_1179+856dup | XP_011510051.1:n.1179+850_1179+856dup | |
| XM_011511750.3:c.1076-102_1076-96dup | XP_011510052.1:n.1076-102_1076-96dup | |
| XM_011511751.2:c.1212+565_1212+571dup | XP_011510053.1:n.1212+565_1212+571dup | |
| XM_011511753.3:c.1075+850_1075+856dup | XP_011510055.1:n.1075+850_1075+856dup | |
| XM_011511756.2:c.853+6267_853+6273dup | XP_011510058.1:n.853+6267_853+6273dup | |
| XM_011511757.3:c.*14-102_*14-96dup | XP_011510059.1:n.*14-102_*14-96dup | |
| XM_017004828.2:c.998-102_998-96dup | XP_016860317.1:n.998-102_998-96dup | |
| XM_017004829.2:c.1213-102_1213-96dup | XP_016860318.1:n.1213-102_1213-96dup | |
| XM_017004830.2:c.1076-102_1076-96dup | XP_016860319.1:n.1076-102_1076-96dup | |
| XM_024453102.1:c.848-102_848-96dup | XP_024308870.1:n.848-102_848-96dup | |
| XR_001738918.2:n.1372-102_1372-96dup | ||
| XR_001738919.2:n.1306-102_1306-96dup | ||
| XR_002959334.1:n.1858-102_1858-96dup | ||
| XR_002959335.1:n.1502-102_1502-96dup | ||
| XR_241434.4:n.1336-102_1336-96dup | ||
| XR_923004.3:n.1629-102_1629-96dup | ||
| XR_923005.2:n.1372-102_1372-96dup | ||
| XR_923007.3:n.1339-102_1339-96dup | ||
| XR_923009.2:n.1235-102_1235-96dup | ||
| XR_923010.2:n.1669-102_1669-96dup | ||
| XR_923011.3:n.1440-102_1440-96dup | ||
| XR_923012.2:n.1374-102_1374-96dup | ||
| XR_923014.3:n.1013-4705_1013-4699dup | ||
| NM_152783.5:c.998-102_998-96dup MANE Select | NP_689996.4:n.998-102_998-96dup | |
| NM_001287249.2:c.596-102_596-96dup | NP_001274178.1:n.596-102_596-96dup | |
| NM_001352824.2:c.437-102_437-96dup | NP_001339753.1:n.437-102_437-96dup | |
| NR_109778.2:n.1012-4705_1012-4699dup |