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_000002.12:g.230177487_230177490delinsTCTC , CM000664.2:g.230177487_230177490delinsTCTC | GRCh38 |
| NC_000002.11:g.231042203_231042206delinsTCTC , CM000664.1:g.231042203_231042206delinsTCTC | GRCh37 |
| NC_000002.10:g.230750447_230750450delinsTCTC | NCBI36 |
| NG_008295.1:g.47622_47625delinsGAGA , LRG_109:g.47622_47625delinsGAGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000462232.2:c.981+48_981+51delinsGAGA | ENSP00000513566.1:n.981+48_981+51delinsGA... | |
| ENST00000489597.2:c.*39_*42delinsGAGA | ENSP00000513565.1:n.*39_*42delinsGAGA | |
| ENST00000698099.1:c.1590+48_1590+51delinsGAGA | ENSP00000513563.1:n.1590+48_1590+51delins... | |
| ENST00000698100.1:c.1440+48_1440+51delinsGAGA | ENSP00000513564.1:n.1440+48_1440+51delins... | |
| ENST00000698101.1:n.360_363delinsGAGA | ||
| ENST00000698102.1:n.2454_2457delinsGAGA | ||
| ENST00000698103.1:c.*39_*42delinsGAGA | ENSP00000513567.1:n.*39_*42delinsGAGA | |
| ENST00000258381.11:c.1590+48_1590+51delinsGAGA MANE Select | ENSP00000258381.6:n.1590+48_1590+51delins... | |
| ENST00000258382.10:c.1590+48_1590+51delinsGAGA | ENSP00000258382.5:n.1590+48_1590+51delins... | |
| ENST00000358662.9:c.1590+48_1590+51delinsGAGA | ENSP00000351488.4:n.1590+48_1590+51delins... | |
| ENST00000540870.5:c.1608+48_1608+51delinsGAGA | ENSP00000439558.1:n.1608+48_1608+51delins... | |
| ENST00000258381.10:c.1590+48_1590+51delinsGAGA | ENSP00000258381.6:n.1590+48_1590+51delins... | |
| ENST00000258382.9:c.1590+48_1590+51delinsGAGA | ENSP00000258382.5:n.1590+48_1590+51delins... | |
| ENST00000358662.8:c.1590+48_1590+51delinsGAGA | ENSP00000351488.4:n.1590+48_1590+51delins... | |
| ENST00000392048.7:c.1584+48_1584+51delinsGAGA | ENSP00000375902.3:n.1584+48_1584+51delins... | |
| ENST00000489597.1:n.292_295delinsGAGA | ||
| ENST00000540870.4:c.1608+48_1608+51delinsGAGA | ENSP00000439558.1:n.1608+48_1608+51delins... | |
| NM_001185015.1:c.1608+48_1608+51delinsGAGA | NP_001171944.1:n.1608+48_1608+51delinsGAG... | |
| NM_004509.3:c.1590+48_1590+51delinsGAGA | NP_004500.3:n.1590+48_1590+51delinsGAGA | |
| NM_004510.3:c.1590+48_1590+51delinsGAGA | NP_004501.3:n.1590+48_1590+51delinsGAGA | |
| NM_080424.2:c.1590+48_1590+51delinsGAGA , LRG_109t1:c.1590+48_1590+51delinsGAGA | NP_536349.2:n.1590+48_1590+51delinsGAGA | |
| XM_005246525.2:c.1608+48_1608+51delinsGAGA | XP_005246582.1:n.1608+48_1608+51delinsGAG... | |
| XM_006712487.2:c.1608+48_1608+51delinsGAGA | XP_006712550.1:n.1608+48_1608+51delinsGAG... | |
| XM_006712489.2:c.1608+48_1608+51delinsGAGA | XP_006712552.1:n.1608+48_1608+51delinsGAG... | |
| XM_011511088.1:c.1608+48_1608+51delinsGAGA | XP_011509390.1:n.1608+48_1608+51delinsGAG... | |
| XM_011511089.1:c.1590+48_1590+51delinsGAGA | XP_011509391.1:n.1590+48_1590+51delinsGAG... | |
| XM_011511090.1:c.1458+48_1458+51delinsGAGA | XP_011509392.1:n.1458+48_1458+51delinsGAG... | |
| XM_011511091.1:c.1608+48_1608+51delinsGAGA | XP_011509393.1:n.1608+48_1608+51delinsGAG... | |
| XM_011511092.1:c.981+48_981+51delinsGAGA | XP_011509394.1:n.981+48_981+51delinsGAGA | |
| XM_005246525.4:c.1608+48_1608+51delinsGAGA | XP_005246582.1:n.1608+48_1608+51delinsGAG... | |
| XM_006712487.3:c.1608+48_1608+51delinsGAGA | XP_006712550.1:n.1608+48_1608+51delinsGAG... | |
| XM_006712489.4:c.1608+48_1608+51delinsGAGA | XP_006712552.1:n.1608+48_1608+51delinsGAG... | |
| XM_011511088.3:c.1608+48_1608+51delinsGAGA | XP_011509390.1:n.1608+48_1608+51delinsGAG... | |
| XM_011511089.3:c.1590+48_1590+51delinsGAGA | XP_011509391.1:n.1590+48_1590+51delinsGAG... | |
| XM_011511090.3:c.1458+48_1458+51delinsGAGA | XP_011509392.1:n.1458+48_1458+51delinsGAG... | |
| XM_011511091.3:c.1608+48_1608+51delinsGAGA | XP_011509393.1:n.1608+48_1608+51delinsGAG... | |
| XM_011511092.3:c.981+48_981+51delinsGAGA | XP_011509394.1:n.981+48_981+51delinsGAGA | |
| XM_017003968.2:c.1608+48_1608+51delinsGAGA | XP_016859457.1:n.1608+48_1608+51delinsGAG... | |
| XM_017003969.1:c.1458+48_1458+51delinsGAGA | XP_016859458.1:n.1458+48_1458+51delinsGAG... | |
| XM_024452850.1:c.1458+48_1458+51delinsGAGA | XP_024308618.1:n.1458+48_1458+51delinsGAG... | |
| XM_024452851.1:c.1440+48_1440+51delinsGAGA | XP_024308619.1:n.1440+48_1440+51delinsGAG... | |
| NM_001185015.2:c.1608+48_1608+51delinsGAGA | NP_001171944.1:n.1608+48_1608+51delinsGAG... | |
| NM_004509.4:c.1590+48_1590+51delinsGAGA | NP_004500.4:n.1590+48_1590+51delinsGAGA | |
| NM_004510.4:c.1590+48_1590+51delinsGAGA | NP_004501.4:n.1590+48_1590+51delinsGAGA | |
| NM_080424.3:c.1590+48_1590+51delinsGAGA | NP_536349.3:n.1590+48_1590+51delinsGAGA | |
| NM_001378442.1:c.1608+48_1608+51delinsGAGA | NP_001365371.1:n.1608+48_1608+51delinsGAG... | |
| NM_001378443.1:c.1590+48_1590+51delinsGAGA | NP_001365372.1:n.1590+48_1590+51delinsGAG... | |
| NM_001378444.1:c.1608+48_1608+51delinsGAGA | NP_001365373.1:n.1608+48_1608+51delinsGAG... | |
| NM_001378445.1:c.1608+48_1608+51delinsGAGA | NP_001365374.1:n.1608+48_1608+51delinsGAG... | |
| NM_001378446.1:c.1608+48_1608+51delinsGAGA | NP_001365375.1:n.1608+48_1608+51delinsGAG... | |
| NM_001378447.1:c.1440+48_1440+51delinsGAGA | NP_001365376.1:n.1440+48_1440+51delinsGAG... | |
| NM_004509.5:c.1590+48_1590+51delinsGAGA | NP_004500.4:n.1590+48_1590+51delinsGAGA | |
| NM_080424.4:c.1590+48_1590+51delinsGAGA MANE Select | NP_536349.3:n.1590+48_1590+51delinsGAGA |