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_000023.11:g.53198946_53198947insAG , CM000685.2:g.53198946_53198947insAG | GRCh38 |
| NC_000023.10:g.53228128_53228129insAG , CM000685.1:g.53228128_53228129insAG | GRCh37 |
| NC_000023.9:g.53244853_53244854insAG | NCBI36 |
| NG_008085.1:g.31476_31477insCT | |
| NG_008085.2:g.31476_31477insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685423.1:c.2243+30_2243+31insCT | ENSP00000508806.1:n.2243+30_2243+31insCT | |
| ENST00000685641.1:c.2243+30_2243+31insCT | ENSP00000509818.1:n.2243+30_2243+31insCT | |
| ENST00000687695.1:c.2240+30_2240+31insCT | ENSP00000508631.1:n.2240+30_2240+31insCT | |
| ENST00000688699.1:c.2243+30_2243+31insCT | ENSP00000510430.1:n.2243+30_2243+31insCT | |
| ENST00000691505.1:c.2243+30_2243+31insCT | ENSP00000510354.1:n.2243+30_2243+31insCT | |
| ENST00000693277.1:c.1748+30_1748+31insCT | ENSP00000510522.1:n.1748+30_1748+31insCT | |
| ENST00000375401.8:c.2243+30_2243+31insCT MANE Select | ENSP00000364550.4:n.2243+30_2243+31insCT | |
| ENST00000375379.7:c.2243+30_2243+31insCT | ENSP00000364528.3:n.2243+30_2243+31insCT | |
| ENST00000375383.7:c.2120+30_2120+31insCT | ENSP00000364532.3:n.2120+30_2120+31insCT | |
| ENST00000375401.7:c.2243+30_2243+31insCT | ENSP00000364550.3:n.2243+30_2243+31insCT | |
| ENST00000404049.7:c.2240+30_2240+31insCT | ENSP00000385394.3:n.2240+30_2240+31insCT | |
| ENST00000452825.7:c.2042+30_2042+31insCT | ENSP00000445176.1:n.2042+30_2042+31insCT | |
| ENST00000497100.5:n.1004+30_1004+31insCT | ||
| NM_001146702.1:c.2042+30_2042+31insCT | NP_001140174.1:n.2042+30_2042+31insCT | |
| NM_001282622.1:c.2240+30_2240+31insCT | NP_001269551.1:n.2240+30_2240+31insCT | |
| NM_004187.3:c.2243+30_2243+31insCT | NP_004178.2:n.2243+30_2243+31insCT | |
| XM_005262035.3:c.2243+30_2243+31insCT | XP_005262092.1:n.2243+30_2243+31insCT | |
| XM_006724609.2:c.2243+30_2243+31insCT | XP_006724672.1:n.2243+30_2243+31insCT | |
| XM_011530824.1:c.2243+30_2243+31insCT | XP_011529126.1:n.2243+30_2243+31insCT | |
| XM_011530825.1:c.2120+30_2120+31insCT | XP_011529127.1:n.2120+30_2120+31insCT | |
| XM_011530826.1:c.2120+30_2120+31insCT | XP_011529128.1:n.2120+30_2120+31insCT | |
| XM_011530827.1:c.2243+30_2243+31insCT | XP_011529129.1:n.2243+30_2243+31insCT | |
| XM_011530828.1:c.2243+30_2243+31insCT | XP_011529130.1:n.2243+30_2243+31insCT | |
| XM_011530829.1:c.1748+30_1748+31insCT | XP_011529131.1:n.1748+30_1748+31insCT | |
| XM_011530830.1:c.1748+30_1748+31insCT | XP_011529132.1:n.1748+30_1748+31insCT | |
| XM_011530831.1:c.1259+30_1259+31insCT | XP_011529133.1:n.1259+30_1259+31insCT | |
| XR_938369.1:n.2589+30_2589+31insCT | ||
| XR_938370.1:n.2589+30_2589+31insCT | ||
| XR_938371.1:n.2589+30_2589+31insCT | ||
| XR_938372.1:n.2589+30_2589+31insCT | ||
| XR_938373.1:n.2589+30_2589+31insCT | ||
| NM_001353978.1:c.2243+30_2243+31insCT | NP_001340907.1:n.2243+30_2243+31insCT | |
| NM_001353979.1:c.2240+30_2240+31insCT | NP_001340908.1:n.2240+30_2240+31insCT | |
| NM_001353981.1:c.2243+30_2243+31insCT | NP_001340910.1:n.2243+30_2243+31insCT | |
| NM_001353982.1:c.2240+30_2240+31insCT | NP_001340911.1:n.2240+30_2240+31insCT | |
| NM_001353984.1:c.2243+30_2243+31insCT | NP_001340913.1:n.2243+30_2243+31insCT | |
| NR_148672.1:n.2776+30_2776+31insCT | ||
| NR_148673.1:n.2773+30_2773+31insCT | ||
| NR_148674.1:n.2653+30_2653+31insCT | ||
| XM_011530824.3:c.2243+30_2243+31insCT | XP_011529126.1:n.2243+30_2243+31insCT | |
| XM_011530825.3:c.2120+30_2120+31insCT | XP_011529127.1:n.2120+30_2120+31insCT | |
| XM_011530826.3:c.2120+30_2120+31insCT | XP_011529128.1:n.2120+30_2120+31insCT | |
| XM_011530827.3:c.2243+30_2243+31insCT | XP_011529129.1:n.2243+30_2243+31insCT | |
| XM_011530828.2:c.2243+30_2243+31insCT | XP_011529130.1:n.2243+30_2243+31insCT | |
| XM_011530829.2:c.1748+30_1748+31insCT | XP_011529131.1:n.1748+30_1748+31insCT | |
| XM_011530830.2:c.1748+30_1748+31insCT | XP_011529132.1:n.1748+30_1748+31insCT | |
| XM_011530831.2:c.1259+30_1259+31insCT | XP_011529133.1:n.1259+30_1259+31insCT | |
| XM_024452466.1:c.2240+30_2240+31insCT | XP_024308234.1:n.2240+30_2240+31insCT | |
| XR_001755735.2:n.2569+30_2569+31insCT | ||
| XR_001755736.2:n.2569+30_2569+31insCT | ||
| XR_001755737.2:n.2569+30_2569+31insCT | ||
| XR_938370.3:n.2569+30_2569+31insCT | ||
| NM_001146702.2:c.2042+30_2042+31insCT | NP_001140174.1:n.2042+30_2042+31insCT | |
| NM_001282622.3:c.2240+30_2240+31insCT | NP_001269551.1:n.2240+30_2240+31insCT | |
| NM_001353978.3:c.2243+30_2243+31insCT | NP_001340907.1:n.2243+30_2243+31insCT | |
| NM_001353979.2:c.2240+30_2240+31insCT | NP_001340908.1:n.2240+30_2240+31insCT | |
| NM_001353981.2:c.2243+30_2243+31insCT | NP_001340910.1:n.2243+30_2243+31insCT | |
| NM_001353982.2:c.2240+30_2240+31insCT | NP_001340911.1:n.2240+30_2240+31insCT | |
| NM_004187.5:c.2243+30_2243+31insCT MANE Select | NP_004178.2:n.2243+30_2243+31insCT | |
| NR_148672.2:n.2561+30_2561+31insCT | ||
| NR_148673.2:n.2558+30_2558+31insCT | ||
| NR_148674.2:n.2438+30_2438+31insCT | ||
| NM_001353984.2:c.2243+30_2243+31insCT | NP_001340913.1:n.2243+30_2243+31insCT |