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_000022.11:g.28725000_28725001delinsCA , CM000684.2:g.28725000_28725001delinsCA | GRCh38 |
| NC_000022.10:g.29120988_29120989delinsCA , CM000684.1:g.29120988_29120989delinsCA | GRCh37 |
| NC_000022.9:g.27450988_27450989delinsCA | NCBI36 |
| NG_008150.1:g.21834_21835delinsTG | |
| NG_008150.2:g.21866_21867delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439346.6:c.568_569delinsTG | ENSP00000396903.2:p.Ala190Ter | |
| ENST00000454252.2:c.*548_*549delinsTG | ENSP00000387451.2:n.*548_*549delinsTG | |
| ENST00000711048.1:c.568_569delinsTG | ENSP00000518557.1:p.Ala190Ter | |
| ENST00000402731.6:c.445-78_445-77delinsTG | ENSP00000384835.2:n.445-78_445-77delinsTG... | |
| ENST00000404276.6:c.568_569delinsTG MANE Select | ENSP00000385747.1:p.Ala190Ter | |
| ENST00000425190.7:c.-96_-95delinsTG | ENSP00000390244.2:n.-96_-95delinsTG | |
| ENST00000649563.1:c.-71-5516_-71-5515delinsTG | ENSP00000496928.1:n.-71-5516_-71-5515deli... | |
| ENST00000650281.1:c.568_569delinsTG | ENSP00000497000.1:p.Ala190Ter | |
| ENST00000328354.10:c.568_569delinsTG | ENSP00000329178.6:p.Ala190Ter | |
| ENST00000348295.7:c.568_569delinsTG | ENSP00000329012.5:p.Ala190Ter | |
| ENST00000382565.5:c.568_569delinsTG | ENSP00000372006.2:p.Ala190Ter | |
| ENST00000382580.6:c.697_698delinsTG | ENSP00000372023.2:p.Ala233Ter | |
| ENST00000402731.5:c.568_569delinsTG | ENSP00000384835.1:p.Ala190Ter | |
| ENST00000403642.5:c.320-5516_320-5515delinsTG | ENSP00000384919.1:n.320-5516_320-5515deli... | |
| ENST00000404276.5:c.568_569delinsTG | ENSP00000385747.1:p.Ala190Ter | |
| ENST00000405598.5:c.568_569delinsTG | ENSP00000386087.1:p.Ala190Ter | |
| ENST00000416671.5:c.568_569delinsTG | ENSP00000402225.1:p.Ala190Ter | |
| ENST00000417588.5:c.568_569delinsTG | ENSP00000412901.1:p.Ala190Ter | |
| ENST00000425190.6:c.-96_-95delinsTG | ENSP00000390244.1:n.-96_-95delinsTG | |
| ENST00000433028.6:c.445-78_445-77delinsTG | ENSP00000403659.1:n.445-78_445-77delinsTG... | |
| ENST00000433728.5:c.568_569delinsTG | ENSP00000404400.1:p.Ala190Ter | |
| ENST00000439200.5:c.661_662delinsTG | ENSP00000408065.1:p.Ala221Ter | |
| ENST00000439346.5:c.130_131delinsTG | ENSP00000396903.1:p.Ala44Ter | |
| ENST00000447421.5:c.445-78_445-77delinsTG | ENSP00000397478.2:n.445-78_445-77delinsTG... | |
| ENST00000448511.5:c.445-78_445-77delinsTG | ENSP00000404567.1:n.445-78_445-77delinsTG... | |
| ENST00000454252.1:c.686_687delinsTG | ENSP00000387451.1:n.686_687delinsTG | |
| NM_001005735.1:c.697_698delinsTG | NP_001005735.1:p.Ala233Ter | |
| NM_001257387.1:c.-210_-209delinsTG | NP_001244316.1:n.-210_-209delinsTG | |
| NM_007194.3:c.568_569delinsTG | NP_009125.1:p.Ala190Ter | |
| NM_145862.2:c.568_569delinsTG | NP_665861.1:p.Ala190Ter | |
| XM_011529839.1:c.727_728delinsTG | XP_011528141.1:p.Ala243Ter | |
| XM_011529840.1:c.727_728delinsTG | XP_011528142.1:p.Ala243Ter | |
| XM_011529841.1:c.574-78_574-77delinsTG | XP_011528143.1:n.574-78_574-77delinsTG | |
| XM_011529842.1:c.475-78_475-77delinsTG | XP_011528144.1:n.475-78_475-77delinsTG | |
| XM_011529843.1:c.445-78_445-77delinsTG | XP_011528145.1:n.445-78_445-77delinsTG | |
| XM_011529844.1:c.727_728delinsTG | XP_011528146.1:p.Ala243Ter | |
| XM_011529845.1:c.-96_-95delinsTG | XP_011528147.1:n.-96_-95delinsTG | |
| XR_937805.1:n.789_790delinsTG | ||
| XR_937806.1:n.784_785delinsTG | ||
| XR_937807.1:n.784_785delinsTG | ||
| NM_001349956.1:c.445-78_445-77delinsTG | NP_001336885.1:n.445-78_445-77delinsTG | |
| NM_007194.4:c.568_569delinsTG MANE Select | NP_009125.1:p.Ala190Ter | |
| XM_011529839.2:c.727_728delinsTG | XP_011528141.1:p.Ala243Ter | |
| XM_011529840.3:c.727_728delinsTG | XP_011528142.1:p.Ala243Ter | |
| XM_011529842.2:c.475-78_475-77delinsTG | XP_011528144.1:n.475-78_475-77delinsTG | |
| XM_011529844.2:c.727_728delinsTG | XP_011528146.1:p.Ala243Ter | |
| XM_011529845.2:c.-96_-95delinsTG | XP_011528147.1:n.-96_-95delinsTG | |
| XM_017028560.1:c.691_692delinsTG | XP_016884049.1:p.Ala231Ter | |
| XM_024452148.1:c.598_599delinsTG | XP_024307916.1:p.Ala200Ter | |
| XM_024452149.1:c.598_599delinsTG | XP_024307917.1:p.Ala200Ter | |
| XR_937805.2:n.800_801delinsTG | ||
| XR_937806.2:n.800_801delinsTG | ||
| XR_937807.2:n.800_801delinsTG | ||
| NM_001005735.2:c.697_698delinsTG | NP_001005735.1:p.Ala233Ter | |
| NM_001257387.2:c.-210_-209delinsTG | NP_001244316.1:n.-210_-209delinsTG | |
| NM_001349956.2:c.445-78_445-77delinsTG | NP_001336885.1:n.445-78_445-77delinsTG |