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_000017.11:g.46010381_46010383dup , CM000679.2:g.46010381_46010383dup | GRCh38 |
| NC_000017.10:g.44087747_44087749dup , CM000679.1:g.44087747_44087749dup | GRCh37 |
| NC_000017.9:g.41443584_41443586dup | NCBI36 |
| NG_007398.1:g.120961_120963dup | |
| NG_007398.2:g.120919_120921dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420682.7:c.807_809dup | ENSP00000413056.2:p.Lys269_His270insGln | |
| ENST00000703922.1:c.807_809dup | ENSP00000515557.1:p.Lys269_His270insGln | |
| ENST00000703923.1:c.720_722dup | ENSP00000515558.1:p.Lys240_His241insGln | |
| ENST00000703924.1:c.807_809dup | ENSP00000515559.1:p.Lys269_His270insGln | |
| ENST00000703978.1:c.894_896dup | ENSP00000515600.1:p.Lys298_His299insGln | |
| ENST00000703979.1:n.687-3862_687-3860dup | ||
| ENST00000703980.1:n.120_122dup | ||
| ENST00000703981.1:n.63_65dup | ||
| ENST00000262410.10:c.2070_2072dup MANE Select | ENSP00000262410.6:p.Lys690_His691insGln | |
| ENST00000344290.10:c.1801-3862_1801-3860dup | ENSP00000340820.6:n.1801-3862_1801-3860dup | |
| ENST00000351559.10:c.894_896dup | ENSP00000303214.7:p.Lys298_His299insGln | |
| ENST00000535772.6:c.736-3862_736-3860dup | ENSP00000443028.2:n.736-3862_736-3860dup | |
| ENST00000680542.1:c.807_809dup | ENSP00000505258.1:p.Lys269_His270insGln | |
| ENST00000680674.1:c.720_722dup | ENSP00000505478.1:p.Lys240_His241insGln | |
| ENST00000262410.9:c.1845_1847dup | ENSP00000262410.5:p.Lys615_His616insGln | |
| ENST00000334239.12:c.649-3862_649-3860dup | ENSP00000334886.8:n.649-3862_649-3860dup | |
| ENST00000340799.9:c.807_809dup | ENSP00000340438.5:p.Lys269_His270insGln | |
| ENST00000344290.9:c.1899_1901dup | ENSP00000340820.5:p.Lys633_His634insGln | |
| ENST00000351559.9:c.894_896dup | ENSP00000303214.7:p.Lys298_His299insGln | |
| ENST00000415613.6:c.1899_1901dup | ENSP00000410838.2:p.Lys633_His634insGln | |
| ENST00000420682.6:c.807_809dup | ENSP00000413056.2:p.Lys269_His270insGln | |
| ENST00000431008.7:c.823-3862_823-3860dup | ENSP00000389250.3:n.823-3862_823-3860dup | |
| ENST00000446361.7:c.720_722dup | ENSP00000408975.3:p.Lys240_His241insGln | |
| ENST00000535772.5:c.823-3862_823-3860dup | ENSP00000443028.1:n.823-3862_823-3860dup | |
| ENST00000570299.5:n.777-8237_777-8235dup | ||
| ENST00000571987.5:c.1845_1847dup | ENSP00000458742.1:p.Lys615_His616insGln | |
| ENST00000574436.5:c.894_896dup | ENSP00000460965.1:p.Lys298_His299insGln | |
| ENST00000576518.1:n.6108-3862_6108-3860dup | ||
| NM_001123066.3:c.1899_1901dup | NP_001116538.2:p.Lys633_His634insGln | |
| NM_001123067.3:c.807_809dup | NP_001116539.1:p.Lys269_His270insGln | |
| NM_001203251.1:c.736-3862_736-3860dup | NP_001190180.1:n.736-3862_736-3860dup | |
| NM_001203252.1:c.823-3862_823-3860dup | NP_001190181.1:n.823-3862_823-3860dup | |
| NM_005910.5:c.894_896dup | NP_005901.2:p.Lys298_His299insGln | |
| NM_016834.4:c.720_722dup | NP_058518.1:p.Lys240_His241insGln | |
| NM_016835.4:c.1845_1847dup | NP_058519.3:p.Lys615_His616insGln | |
| NM_016841.4:c.649-3862_649-3860dup | NP_058525.1:n.649-3862_649-3860dup | |
| XM_005257362.3:c.2157_2159dup | XP_005257419.1:p.Lys719_His720insGln | |
| XM_005257364.3:c.2070_2072dup | XP_005257421.1:p.Lys690_His691insGln | |
| XM_005257365.3:c.2086-3862_2086-3860dup | XP_005257422.1:n.2086-3862_2086-3860dup | |
| XM_005257366.2:c.1983_1985dup | XP_005257423.1:p.Lys661_His662insGln | |
| XM_005257367.3:c.1959_1961dup | XP_005257424.1:p.Lys653_His654insGln | |
| XM_005257368.3:c.1888-3862_1888-3860dup | XP_005257425.1:n.1888-3862_1888-3860dup | |
| XM_005257369.3:c.1092_1094dup | XP_005257426.1:p.Lys364_His365insGln | |
| XM_005257370.3:c.1005_1007dup | XP_005257427.1:p.Lys335_His336insGln | |
| XM_005257371.3:c.918_920dup | XP_005257428.1:p.Lys306_His307insGln | |
| XM_005257362.4:c.2157_2159dup | XP_005257419.1:p.Lys719_His720insGln | |
| XM_005257364.4:c.2070_2072dup | XP_005257421.1:p.Lys690_His691insGln | |
| XM_005257365.4:c.2086-3862_2086-3860dup | XP_005257422.1:n.2086-3862_2086-3860dup | |
| XM_005257366.3:c.1983_1985dup | XP_005257423.1:p.Lys661_His662insGln | |
| XM_005257367.4:c.1959_1961dup | XP_005257424.1:p.Lys653_His654insGln | |
| XM_005257368.4:c.1888-3862_1888-3860dup | XP_005257425.1:n.1888-3862_1888-3860dup | |
| XM_005257369.4:c.1092_1094dup | XP_005257426.1:p.Lys364_His365insGln | |
| XM_005257370.4:c.1005_1007dup | XP_005257427.1:p.Lys335_His336insGln | |
| XM_005257371.4:c.918_920dup | XP_005257428.1:p.Lys306_His307insGln | |
| NM_001203251.2:c.736-3862_736-3860dup | NP_001190180.1:n.736-3862_736-3860dup | |
| NM_001377265.1:c.2070_2072dup MANE Select | NP_001364194.1:p.Lys690_His691insGln | |
| NM_001377266.1:c.1801-3862_1801-3860dup | NP_001364195.1:n.1801-3862_1801-3860dup | |
| NM_001377267.1:c.736-3862_736-3860dup | NP_001364196.1:n.736-3862_736-3860dup | |
| NM_001377268.1:c.649-3862_649-3860dup | NP_001364197.1:n.649-3862_649-3860dup | |
| NM_016834.5:c.720_722dup | NP_058518.1:p.Lys240_His241insGln | |
| NM_016841.5:c.649-3862_649-3860dup | NP_058525.1:n.649-3862_649-3860dup | |
| NR_165166.1:n.747-3862_747-3860dup | ||
| NM_001123066.4:c.1899_1901dup | NP_001116538.2:p.Lys633_His634insGln | |
| NM_001123067.4:c.807_809dup | NP_001116539.1:p.Lys269_His270insGln | |
| NM_001203252.2:c.823-3862_823-3860dup | NP_001190181.1:n.823-3862_823-3860dup | |
| NM_005910.6:c.894_896dup | NP_005901.2:p.Lys298_His299insGln | |
| NM_016835.5:c.1845_1847dup | NP_058519.3:p.Lys615_His616insGln |