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.112828498_112828534delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC , CM000667.2:g.112828498_112828534delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | GRCh38 |
| NC_000005.9:g.112164195_112164231delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC , CM000667.1:g.112164195_112164231delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | GRCh37 |
| NC_000005.8:g.112192094_112192130delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NCBI36 |
| NG_008481.4:g.140978_141014delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC , LRG_130:g.140978_141014delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502371.3:c.1409-6453_1409-6417delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000484935.2:n.1409-6453_1409-6417delinsGCTGGAGTGCAGTGGT... | |
| ENST00000504915.3:c.1681-358_1681-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000473355.2:n.1681-358_1681-322delinsGCTGGAGTGCAGTGGTGC... | |
| ENST00000505084.2:n.1683-358_1683-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ||
| ENST00000505350.2:c.*1633-358_*1633-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000481752.1:n.*1633-358_*1633-322delinsGCTGGAGTGCAGTGGT... | |
| ENST00000507379.6:c.1573-358_1573-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000423224.2:n.1573-358_1573-322delinsGCTGGAGTGCAGTGGTGC... | |
| ENST00000509732.6:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000426541.2:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGC... | |
| ENST00000512211.7:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000423828.3:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGC... | |
| ENST00000257430.9:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC MANE Select | ENSP00000257430.4:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGC... | |
| ENST00000257430.8:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000257430.4:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGC... | |
| ENST00000502371.2:c.97-6453_97-6417delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ||
| ENST00000504915.2:c.316-358_316-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000473355.1:n.316-358_316-322delinsGCTGGAGTGCAGTGGTGCGA... | |
| ENST00000505084.1:n.114-358_114-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ||
| ENST00000507379.5:c.1573-358_1573-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000423224.1:n.1573-358_1573-322delinsGCTGGAGTGCAGTGGTGC... | |
| ENST00000508376.6:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000427089.2:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGC... | |
| ENST00000508624.5:c.*949-358_*949-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000424265.1:n.*949-358_*949-322delinsGCTGGAGTGCAGTGGTGC... | |
| ENST00000512211.6:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ENSP00000423828.2:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGC... | |
| ENST00000520401.1:c.114-358_114-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | ||
| NM_000038.5:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_000029.2:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTAT... | |
| NM_001127510.2:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001120982.1:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001127511.2:c.1573-358_1573-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001120983.2:n.1573-358_1573-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354895.1:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341824.1:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354896.1:c.1681-358_1681-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341825.1:n.1681-358_1681-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354897.1:c.1657-358_1657-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341826.1:n.1657-358_1657-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354898.1:c.1552-358_1552-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341827.1:n.1552-358_1552-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354899.1:c.1543-358_1543-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341828.1:n.1543-358_1543-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354900.1:c.1504-358_1504-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341829.1:n.1504-358_1504-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354901.1:c.1450-358_1450-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341830.1:n.1450-358_1450-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354902.1:c.1354-358_1354-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341831.1:n.1354-358_1354-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354903.1:c.1324-358_1324-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341832.1:n.1324-358_1324-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354904.1:c.1249-358_1249-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341833.1:n.1249-358_1249-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354905.1:c.1147-358_1147-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341834.1:n.1147-358_1147-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354906.1:c.778-358_778-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341835.1:n.778-358_778-322delinsGCTGGAGTGCAGTGGTGCGATTA... | |
| NM_000038.6:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC MANE Select | NP_000029.2:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTAT... | |
| NM_001127510.3:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001120982.1:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001127511.3:c.1573-358_1573-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001120983.2:n.1573-358_1573-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354895.2:c.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341824.1:n.1627-358_1627-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354896.2:c.1681-358_1681-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341825.1:n.1681-358_1681-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354897.2:c.1657-358_1657-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341826.1:n.1657-358_1657-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354898.2:c.1552-358_1552-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341827.1:n.1552-358_1552-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354899.2:c.1543-358_1543-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341828.1:n.1543-358_1543-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354900.2:c.1504-358_1504-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341829.1:n.1504-358_1504-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354901.2:c.1450-358_1450-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341830.1:n.1450-358_1450-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354902.2:c.1354-358_1354-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341831.1:n.1354-358_1354-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354903.2:c.1324-358_1324-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341832.1:n.1324-358_1324-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354904.2:c.1249-358_1249-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341833.1:n.1249-358_1249-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354905.2:c.1147-358_1147-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341834.1:n.1147-358_1147-322delinsGCTGGAGTGCAGTGGTGCGAT... | |
| NM_001354906.2:c.778-358_778-322delinsGCTGGAGTGCAGTGGTGCGATTATGGCTCACAGTAAC | NP_001341835.1:n.778-358_778-322delinsGCTGGAGTGCAGTGGTGCGATTA... |