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_000013.11:g.100102871_100102872delinsCT , CM000675.2:g.100102871_100102872delinsCT | GRCh38 |
| NC_000013.10:g.100755125_100755126delinsCT , CM000675.1:g.100755125_100755126delinsCT | GRCh37 |
| NC_000013.9:g.99553126_99553127delinsCT | NCBI36 |
| NG_008768.1:g.18789_18790delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376285.6:c.106-12_106-11delinsCT MANE Select | ENSP00000365462.1:n.106-12_106-11delinsCT... | |
| ENST00000647303.1:c.106-12_106-11delinsCT | ENSP00000495663.1:n.106-12_106-11delinsCT... | |
| ENST00000376279.7:c.106-12_106-11delinsCT | ENSP00000365456.3:n.106-12_106-11delinsCT... | |
| ENST00000376285.5:c.106-12_106-11delinsCT | ENSP00000365462.1:n.106-12_106-11delinsCT... | |
| ENST00000376286.8:c.106-8970_106-8969delinsCT | ENSP00000365463.4:n.106-8970_106-8969deli... | |
| NM_000282.3:c.106-12_106-11delinsCT | NP_000273.2:n.106-12_106-11delinsCT | |
| NM_001127692.2:c.106-8970_106-8969delinsCT | NP_001121164.1:n.106-8970_106-8969delinsC... | |
| NM_001178004.1:c.106-12_106-11delinsCT | NP_001171475.1:n.106-12_106-11delinsCT | |
| XM_005254059.2:c.106-12_106-11delinsCT | XP_005254116.1:n.106-12_106-11delinsCT | |
| XM_011521093.1:c.106-12_106-11delinsCT | XP_011519395.1:n.106-12_106-11delinsCT | |
| XR_931615.1:n.207-12_207-11delinsCT | ||
| XR_931616.1:n.207-12_207-11delinsCT | ||
| NM_001352605.1:c.106-12_106-11delinsCT | NP_001339534.1:n.106-12_106-11delinsCT | |
| NM_001352606.1:c.106-12_106-11delinsCT | NP_001339535.1:n.106-12_106-11delinsCT | |
| NM_001352607.1:c.106-8970_106-8969delinsCT | NP_001339536.1:n.106-8970_106-8969delinsC... | |
| NM_001352608.1:c.106-8970_106-8969delinsCT | NP_001339537.1:n.106-8970_106-8969delinsC... | |
| NM_001352609.1:c.106-12_106-11delinsCT | NP_001339538.1:n.106-12_106-11delinsCT | |
| NM_001352610.1:c.-761-12_-761-11delinsCT | NP_001339539.1:n.-761-12_-761-11delinsCT | |
| NM_001352611.1:c.-761-12_-761-11delinsCT | NP_001339540.1:n.-761-12_-761-11delinsCT | |
| NM_001352612.1:c.-761-12_-761-11delinsCT | NP_001339541.1:n.-761-12_-761-11delinsCT | |
| NR_148027.1:n.212-12_212-11delinsCT | ||
| NR_148028.1:n.212-12_212-11delinsCT | ||
| NR_148029.1:n.212-8970_212-8969delinsCT | ||
| NR_148030.1:n.212-12_212-11delinsCT | ||
| NR_148031.1:n.212-12_212-11delinsCT | ||
| XM_017020605.1:c.106-12_106-11delinsCT | XP_016876094.1:n.106-12_106-11delinsCT | |
| XM_017020606.1:c.106-8970_106-8969delinsCT | XP_016876095.1:n.106-8970_106-8969delinsC... | |
| XM_017020607.1:c.7-12_7-11delinsCT | XP_016876096.1:n.7-12_7-11delinsCT | |
| XM_017020609.1:c.7-12_7-11delinsCT | XP_016876098.1:n.7-12_7-11delinsCT | |
| XM_017020611.1:c.106-12_106-11delinsCT | XP_016876100.1:n.106-12_106-11delinsCT | |
| XM_017020612.1:c.106-12_106-11delinsCT | XP_016876101.1:n.106-12_106-11delinsCT | |
| XM_017020613.1:c.106-12_106-11delinsCT | XP_016876102.1:n.106-12_106-11delinsCT | |
| XM_017020615.1:c.106-12_106-11delinsCT | XP_016876104.1:n.106-12_106-11delinsCT | |
| XM_017020616.1:c.106-12_106-11delinsCT | XP_016876105.1:n.106-12_106-11delinsCT | |
| XR_001749567.1:n.207-12_207-11delinsCT | ||
| XR_001749568.1:n.207-12_207-11delinsCT | ||
| XR_001749569.1:n.207-12_207-11delinsCT | ||
| XR_001749574.1:n.136-8970_136-8969delinsCT | ||
| XR_001749576.1:n.207-12_207-11delinsCT | ||
| XR_001749577.1:n.207-12_207-11delinsCT | ||
| NM_000282.4:c.106-12_106-11delinsCT MANE Select | NP_000273.2:n.106-12_106-11delinsCT | |
| NM_001352605.2:c.106-12_106-11delinsCT | NP_001339534.1:n.106-12_106-11delinsCT | |
| NM_001352606.2:c.106-12_106-11delinsCT | NP_001339535.1:n.106-12_106-11delinsCT | |
| NM_001352607.2:c.106-8970_106-8969delinsCT | NP_001339536.1:n.106-8970_106-8969delinsC... | |
| NM_001352608.2:c.106-8970_106-8969delinsCT | NP_001339537.1:n.106-8970_106-8969delinsC... | |
| NM_001352609.2:c.106-12_106-11delinsCT | NP_001339538.1:n.106-12_106-11delinsCT | |
| NM_001352610.2:c.-761-12_-761-11delinsCT | NP_001339539.1:n.-761-12_-761-11delinsCT | |
| NM_001352611.2:c.-761-12_-761-11delinsCT | NP_001339540.1:n.-761-12_-761-11delinsCT | |
| NM_001352612.2:c.-761-12_-761-11delinsCT | NP_001339541.1:n.-761-12_-761-11delinsCT | |
| NR_148027.2:n.134-12_134-11delinsCT | ||
| NR_148028.2:n.134-12_134-11delinsCT | ||
| NR_148029.2:n.134-8970_134-8969delinsCT | ||
| NR_148030.2:n.134-12_134-11delinsCT | ||
| NR_148031.2:n.134-12_134-11delinsCT | ||
| NM_001127692.3:c.106-8970_106-8969delinsCT | NP_001121164.1:n.106-8970_106-8969delinsC... | |
| NM_001178004.2:c.106-12_106-11delinsCT | NP_001171475.1:n.106-12_106-11delinsCT |