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.154413367_154413369del , CM000685.2:g.154413367_154413369del | GRCh38 |
| NC_000023.10:g.153641704_153641706del , CM000685.1:g.153641704_153641706del | GRCh37 |
| NC_000023.9:g.153294898_153294900del | NCBI36 |
| NG_009634.1:g.6828_6830del | |
| NG_012884.2:g.3720_3722del | |
| NG_009634.2:g.6833_6835del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698234.1:n.818+9_818+11del | ||
| ENST00000698235.1:n.358+28_358+30del | ||
| ENST00000698317.1:n.1344+9_1344+11del | ||
| ENST00000698318.1:n.1214_1216del | ||
| ENST00000470127.2:n.448_450del | ||
| ENST00000475699.6:c.339-115_339-113del | ENSP00000419854.3:n.339-115_339-113del | |
| ENST00000476800.2:n.1356_1358del | ||
| ENST00000483674.3:n.176-115_176-113del | ||
| ENST00000601016.6:c.285-115_285-113del MANE Select | ENSP00000469981.1:n.285-115_285-113del | |
| ENST00000612012.5:c.285-115_285-113del | ENSP00000482070.2:n.285-115_285-113del | |
| ENST00000612460.5:c.285-115_285-113del | ENSP00000481037.1:n.285-115_285-113del | |
| ENST00000614595.2:n.1721+28_1721+30del | ||
| ENST00000615658.5:n.598-115_598-113del | ||
| ENST00000616020.5:c.339-115_339-113del | ENSP00000483636.2:n.339-115_339-113del | |
| ENST00000617701.5:c.*102+9_*102+11del | ENSP00000481645.1:n.*102+9_*102+11del | |
| ENST00000621647.2:n.452_454del | ||
| ENST00000652354.1:c.9-115_9-113del | ENSP00000498734.1:n.9-115_9-113del | |
| ENST00000652358.1:c.77+28_77+30del | ENSP00000498464.1:n.77+28_77+30del | |
| ENST00000652390.1:c.204-115_204-113del | ENSP00000498858.1:n.204-115_204-113del | |
| ENST00000652476.1:n.560_562del | ||
| ENST00000652682.1:c.285-115_285-113del | ENSP00000498288.1:n.285-115_285-113del | |
| ENST00000652685.1:n.442+9_442+11del | ||
| ENST00000369776.8:c.210-115_210-113del | ENSP00000358791.4:n.210-115_210-113del | |
| ENST00000426231.5:c.200+15_200+17del | ||
| ENST00000439735.2:c.285-115_285-113del | ENSP00000398193.1:n.285-115_285-113del | |
| ENST00000475699.5:c.285-115_285-113del | ENSP00000419854.2:n.285-115_285-113del | |
| ENST00000476679.5:n.198-115_198-113del | ||
| ENST00000476800.1:n.277_279del | ||
| ENST00000479875.1:n.314-115_314-113del | ||
| ENST00000483780.5:n.59-115_59-113del | ||
| ENST00000601016.5:c.285-115_285-113del | ENSP00000469981.1:n.285-115_285-113del | |
| ENST00000612012.4:c.339-115_339-113del | ENSP00000482070.1:n.339-115_339-113del | |
| ENST00000612460.4:c.285-115_285-113del | ENSP00000481037.1:n.285-115_285-113del | |
| ENST00000613002.4:c.285-115_285-113del | ENSP00000478154.1:n.285-115_285-113del | |
| ENST00000613634.4:n.605-115_605-113del | ||
| ENST00000615658.4:n.697+28_697+30del | ||
| ENST00000615986.4:c.*102+9_*102+11del | ENSP00000480133.1:n.*102+9_*102+11del | |
| ENST00000616020.4:c.339-115_339-113del | ENSP00000483636.1:n.339-115_339-113del | |
| ENST00000617701.4:c.*111_*113del | ENSP00000481645.1:n.*111_*113del | |
| ENST00000620808.4:c.*83+28_*83+30del | ENSP00000479311.1:n.*83+28_*83+30del | |
| ENST00000621647.1:n.684_686del | ||
| NM_000116.4:c.285-115_285-113del | NP_000107.1:n.285-115_285-113del | |
| NM_001303465.1:c.339-115_339-113del | NP_001290394.1:n.339-115_339-113del | |
| NM_181311.3:c.285-115_285-113del | NP_851828.1:n.285-115_285-113del | |
| NM_181312.3:c.285-115_285-113del | NP_851829.1:n.285-115_285-113del | |
| NM_181313.3:c.285-115_285-113del | NP_851830.1:n.285-115_285-113del | |
| NR_024048.2:n.716+9_716+11del | ||
| XM_006724836.1:c.339-115_339-113del | XP_006724899.1:n.339-115_339-113del | |
| XM_006724837.1:c.339-115_339-113del | XP_006724900.1:n.339-115_339-113del | |
| XM_006724839.1:c.339-115_339-113del | XP_006724902.1:n.339-115_339-113del | |
| XM_006724841.2:c.77+28_77+30del | XP_006724904.1:n.77+28_77+30del | |
| XM_006724842.2:c.77+28_77+30del | XP_006724905.1:n.77+28_77+30del | |
| XM_011531189.1:c.339-115_339-113del | XP_011529491.1:n.339-115_339-113del | |
| XM_011531190.1:c.77+28_77+30del | XP_011529492.1:n.77+28_77+30del | |
| XM_011531191.1:c.9-115_9-113del | XP_011529493.1:n.9-115_9-113del | |
| XM_011531192.1:c.2_4del | XP_011529494.1:p.Met1_Gly2delinsArg | |
| XR_938511.1:n.642-115_642-113del | ||
| XM_006724841.4:c.77+28_77+30del | XP_006724904.1:n.77+28_77+30del | |
| XM_006724842.4:c.77+28_77+30del | XP_006724905.1:n.77+28_77+30del | |
| XM_011531191.2:c.9-115_9-113del | XP_011529493.1:n.9-115_9-113del | |
| XM_017029761.1:c.285-115_285-113del | XP_016885250.1:n.285-115_285-113del | |
| XM_017029762.1:c.339-115_339-113del | XP_016885251.1:n.339-115_339-113del | |
| XM_017029763.1:c.285-115_285-113del | XP_016885252.1:n.285-115_285-113del | |
| XM_017029764.1:c.2_4del | XP_016885253.1:p.Met1_Gly2delinsArg | |
| XM_017029765.2:c.77+28_77+30del | XP_016885254.1:n.77+28_77+30del | |
| XM_024452431.1:c.339-115_339-113del | XP_024308199.1:n.339-115_339-113del | |
| NM_000116.5:c.285-115_285-113del MANE Select | NP_000107.1:n.285-115_285-113del | |
| NM_001303465.2:c.339-115_339-113del | NP_001290394.1:n.339-115_339-113del | |
| NM_181311.4:c.285-115_285-113del | NP_851828.1:n.285-115_285-113del | |
| NM_181312.4:c.285-115_285-113del | NP_851829.1:n.285-115_285-113del | |
| NM_181313.4:c.285-115_285-113del | NP_851830.1:n.285-115_285-113del | |
| NR_024048.3:n.695+9_695+11del |