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.46018606_46018607dup , CM000679.2:g.46018606_46018607dup | GRCh38 |
| NC_000017.10:g.44095972_44095973dup , CM000679.1:g.44095972_44095973dup | GRCh37 |
| NC_000017.9:g.41451819_41451820dup | NCBI36 |
| NG_007398.1:g.129196_129197dup | |
| NG_007398.2:g.129144_129145dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420682.7:c.911-12_911-11dup | ENSP00000413056.2:n.911-12_911-11dup | |
| ENST00000703922.1:c.911-12_911-11dup | ENSP00000515557.1:n.911-12_911-11dup | |
| ENST00000703923.1:c.824-12_824-11dup | ENSP00000515558.1:n.824-12_824-11dup | |
| ENST00000703924.1:c.911-12_911-11dup | ENSP00000515559.1:n.911-12_911-11dup | |
| ENST00000703978.1:c.998-12_998-11dup | ENSP00000515600.1:n.998-12_998-11dup | |
| ENST00000703979.1:n.769-12_769-11dup | ||
| ENST00000703980.1:n.224-12_224-11dup | ||
| ENST00000703981.1:n.182-12_182-11dup | ||
| ENST00000703982.1:n.404_405dup | ||
| ENST00000262410.10:c.2174-12_2174-11dup MANE Select | ENSP00000262410.6:n.2174-12_2174-11dup | |
| ENST00000344290.10:c.1883-12_1883-11dup | ENSP00000340820.6:n.1883-12_1883-11dup | |
| ENST00000351559.10:c.998-12_998-11dup | ENSP00000303214.7:n.998-12_998-11dup | |
| ENST00000535772.6:c.818-12_818-11dup | ENSP00000443028.2:n.818-12_818-11dup | |
| ENST00000680542.1:c.911-12_911-11dup | ENSP00000505258.1:n.911-12_911-11dup | |
| ENST00000680674.1:c.947-12_947-11dup | ENSP00000505478.1:n.947-12_947-11dup | |
| ENST00000262410.9:c.1949-12_1949-11dup | ENSP00000262410.5:n.1949-12_1949-11dup | |
| ENST00000334239.12:c.731-12_731-11dup | ENSP00000334886.8:n.731-12_731-11dup | |
| ENST00000340799.9:c.911-12_911-11dup | ENSP00000340438.5:n.911-12_911-11dup | |
| ENST00000344290.9:c.2003-12_2003-11dup | ENSP00000340820.5:n.2003-12_2003-11dup | |
| ENST00000351559.9:c.998-12_998-11dup | ENSP00000303214.7:n.998-12_998-11dup | |
| ENST00000415613.6:c.2003-12_2003-11dup | ENSP00000410838.2:n.2003-12_2003-11dup | |
| ENST00000420682.6:c.911-12_911-11dup | ENSP00000413056.2:n.911-12_911-11dup | |
| ENST00000431008.7:c.905-12_905-11dup | ENSP00000389250.3:n.905-12_905-11dup | |
| ENST00000446361.7:c.824-12_824-11dup | ENSP00000408975.3:n.824-12_824-11dup | |
| ENST00000535772.5:c.905-12_905-11dup | ENSP00000443028.1:n.905-12_905-11dup | |
| ENST00000570299.5:n.777-12_777-11dup | ||
| ENST00000571987.5:c.1949-12_1949-11dup | ENSP00000458742.1:n.1949-12_1949-11dup | |
| ENST00000574436.5:c.998-12_998-11dup | ENSP00000460965.1:n.998-12_998-11dup | |
| ENST00000576518.1:n.6190-12_6190-11dup | ||
| NM_001123066.3:c.2003-12_2003-11dup | NP_001116538.2:n.2003-12_2003-11dup | |
| NM_001123067.3:c.911-12_911-11dup | NP_001116539.1:n.911-12_911-11dup | |
| NM_001203251.1:c.818-12_818-11dup | NP_001190180.1:n.818-12_818-11dup | |
| NM_001203252.1:c.905-12_905-11dup | NP_001190181.1:n.905-12_905-11dup | |
| NM_005910.5:c.998-12_998-11dup | NP_005901.2:n.998-12_998-11dup | |
| NM_016834.4:c.824-12_824-11dup | NP_058518.1:n.824-12_824-11dup | |
| NM_016835.4:c.1949-12_1949-11dup | NP_058519.3:n.1949-12_1949-11dup | |
| NM_016841.4:c.731-12_731-11dup | NP_058525.1:n.731-12_731-11dup | |
| XM_005257362.3:c.2261-12_2261-11dup | XP_005257419.1:n.2261-12_2261-11dup | |
| XM_005257364.3:c.2174-12_2174-11dup | XP_005257421.1:n.2174-12_2174-11dup | |
| XM_005257365.3:c.2168-12_2168-11dup | XP_005257422.1:n.2168-12_2168-11dup | |
| XM_005257366.2:c.2087-12_2087-11dup | XP_005257423.1:n.2087-12_2087-11dup | |
| XM_005257367.3:c.2063-12_2063-11dup | XP_005257424.1:n.2063-12_2063-11dup | |
| XM_005257368.3:c.1970-12_1970-11dup | XP_005257425.1:n.1970-12_1970-11dup | |
| XM_005257369.3:c.1196-12_1196-11dup | XP_005257426.1:n.1196-12_1196-11dup | |
| XM_005257370.3:c.1109-12_1109-11dup | XP_005257427.1:n.1109-12_1109-11dup | |
| XM_005257371.3:c.1022-12_1022-11dup | XP_005257428.1:n.1022-12_1022-11dup | |
| XM_005257362.4:c.2261-12_2261-11dup | XP_005257419.1:n.2261-12_2261-11dup | |
| XM_005257364.4:c.2174-12_2174-11dup | XP_005257421.1:n.2174-12_2174-11dup | |
| XM_005257365.4:c.2168-12_2168-11dup | XP_005257422.1:n.2168-12_2168-11dup | |
| XM_005257366.3:c.2087-12_2087-11dup | XP_005257423.1:n.2087-12_2087-11dup | |
| XM_005257367.4:c.2063-12_2063-11dup | XP_005257424.1:n.2063-12_2063-11dup | |
| XM_005257368.4:c.1970-12_1970-11dup | XP_005257425.1:n.1970-12_1970-11dup | |
| XM_005257369.4:c.1196-12_1196-11dup | XP_005257426.1:n.1196-12_1196-11dup | |
| XM_005257370.4:c.1109-12_1109-11dup | XP_005257427.1:n.1109-12_1109-11dup | |
| XM_005257371.4:c.1022-12_1022-11dup | XP_005257428.1:n.1022-12_1022-11dup | |
| NM_001203251.2:c.818-12_818-11dup | NP_001190180.1:n.818-12_818-11dup | |
| NM_001377265.1:c.2174-12_2174-11dup MANE Select | NP_001364194.1:n.2174-12_2174-11dup | |
| NM_001377266.1:c.1883-12_1883-11dup | NP_001364195.1:n.1883-12_1883-11dup | |
| NM_001377267.1:c.771+4328_771+4329dup | NP_001364196.1:n.771+4328_771+4329dup | |
| NM_001377268.1:c.731-12_731-11dup | NP_001364197.1:n.731-12_731-11dup | |
| NM_016834.5:c.824-12_824-11dup | NP_058518.1:n.824-12_824-11dup | |
| NM_016841.5:c.731-12_731-11dup | NP_058525.1:n.731-12_731-11dup | |
| NR_165166.1:n.829-12_829-11dup | ||
| NM_001123066.4:c.2003-12_2003-11dup | NP_001116538.2:n.2003-12_2003-11dup | |
| NM_001123067.4:c.911-12_911-11dup | NP_001116539.1:n.911-12_911-11dup | |
| NM_001203252.2:c.905-12_905-11dup | NP_001190181.1:n.905-12_905-11dup | |
| NM_005910.6:c.998-12_998-11dup | NP_005901.2:n.998-12_998-11dup | |
| NM_016835.5:c.1949-12_1949-11dup | NP_058519.3:n.1949-12_1949-11dup |