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_000011.10:g.17395538T= , CM000673.2:g.17395538T= | GRCh38 |
| NC_000011.9:g.17417085T= , CM000673.1:g.17417085T= | GRCh37 |
| NC_000011.8:g.17373661T= | NCBI36 |
| NG_008867.1:g.86365A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3908+72A= | ||
| ENST00000528374.2:c.898+72A= | ||
| ENST00000529967.6:n.2646+72A= | ||
| ENST00000532220.2:n.3540+72A= | ||
| ENST00000642611.2:n.5640+72A= | ||
| ENST00000644057.2:n.883+72A= | ||
| ENST00000645004.2:n.1806+72A= | ||
| ENST00000682051.1:n.4469+72A= | ||
| ENST00000682110.1:n.4522+72A= | ||
| ENST00000682140.1:c.*93+72A= | ENSP00000507829.1:n.*93+72A= | |
| ENST00000682185.1:n.5612+72A= | ||
| ENST00000682204.1:c.*2445+72A= | ENSP00000507094.1:n.*2445+72A= | |
| ENST00000682215.1:n.4889+72A= | ||
| ENST00000682288.1:c.*2738+72A= | ENSP00000507506.1:n.*2738+72A= | |
| ENST00000682442.1:n.4742+72A= | ||
| ENST00000682528.1:n.4599+72A= | ||
| ENST00000682673.1:n.4466+72A= | ||
| ENST00000682805.1:n.4927+72A= | ||
| ENST00000682965.1:c.*729+72A= | ENSP00000508229.1:n.*729+72A= | |
| ENST00000683093.1:n.5606+72A= | ||
| ENST00000683136.1:c.4190+72A= | ENSP00000507768.1:n.4190+72A= | |
| ENST00000683153.1:n.4564+72A= | ||
| ENST00000683365.1:n.4624+72A= | ||
| ENST00000683377.1:n.4522+72A= | ||
| ENST00000683456.1:c.*1444+72A= | ENSP00000508318.1:n.*1444+72A= | |
| ENST00000683522.1:n.4522+72A= | ||
| ENST00000683562.1:c.*2476+72A= | ENSP00000508265.1:n.*2476+72A= | |
| ENST00000683693.1:n.6087+72A= | ||
| ENST00000683725.1:c.4307+72A= | ENSP00000507496.1:n.4307+72A= | |
| ENST00000684010.1:n.4517+72A= | ||
| ENST00000684157.1:n.5507+72A= | ||
| ENST00000684253.1:n.4425+72A= | ||
| ENST00000684288.1:c.*2479+72A= | ENSP00000507143.1:n.*2479+72A= | |
| ENST00000684313.1:n.3954+72A= | ||
| ENST00000684332.1:n.4595+72A= | ||
| ENST00000684371.1:n.4628+72A= | ||
| ENST00000684404.1:n.5550+72A= | ||
| ENST00000684442.1:n.4746+72A= | ||
| ENST00000684555.1:c.*2519+72A= | ENSP00000507705.1:n.*2519+72A= | |
| ENST00000684571.1:c.4148+72A= | ENSP00000506935.1:n.4148+72A= | |
| ENST00000684593.1:c.*4012+72A= | ENSP00000507005.1:n.*4012+72A= | |
| ENST00000684711.1:c.*2703+72A= | ENSP00000506841.1:n.*2703+72A= | |
| ENST00000302539.9:c.4310+72A= | ENSP00000303960.4:n.4310+72A= | |
| ENST00000389817.8:c.4307+72A= MANE Select | ENSP00000374467.4:n.4307+72A= | |
| ENST00000642271.1:c.4304+72A= | ENSP00000493749.1:n.4304+72A= | |
| ENST00000642579.1:c.2361+72A= | ||
| ENST00000642611.1:n.5525+72A= | ||
| ENST00000642902.1:c.4089+72A= | ||
| ENST00000643260.1:c.4307+72A= | ENSP00000494450.1:n.4307+72A= | |
| ENST00000643562.1:c.*2429+72A= | ENSP00000496124.1:n.*2429+72A= | |
| ENST00000643925.1:c.2947+72A= | ||
| ENST00000644057.1:n.384+72A= | ||
| ENST00000644484.1:c.*3693+72A= | ENSP00000493558.1:n.*3693+72A= | |
| ENST00000644675.1:c.*2479+72A= | ENSP00000494567.1:n.*2479+72A= | |
| ENST00000644757.1:c.*3202+726A= | ENSP00000495085.1:n.*3202+726A= | |
| ENST00000644772.1:c.4373+72A= | ENSP00000494321.1:n.4373+72A= | |
| ENST00000645004.1:n.2000+72A= | ||
| ENST00000645076.1:c.3506+72A= | ||
| ENST00000645417.1:c.1495+72A= | ||
| ENST00000645744.1:c.*3992+72A= | ENSP00000494564.1:n.*3992+72A= | |
| ENST00000645760.1:c.4728+72A= | ||
| ENST00000645884.1:c.*1590+72A= | ENSP00000495516.1:n.*1590+72A= | |
| ENST00000646003.1:c.*2329+72A= | ENSP00000495259.1:n.*2329+72A= | |
| ENST00000646207.1:c.*3144+72A= | ENSP00000495025.1:n.*3144+72A= | |
| ENST00000646276.1:c.*3711+72A= | ENSP00000496070.1:n.*3711+72A= | |
| ENST00000646592.1:c.3613+72A= | ||
| ENST00000646902.1:c.4274+72A= | ENSP00000494101.1:n.4274+72A= | |
| ENST00000646993.1:c.*2849+72A= | ENSP00000493720.1:n.*2849+72A= | |
| ENST00000647013.1:c.4313+72A= | ENSP00000496741.1:n.4313+72A= | |
| ENST00000647015.1:c.4058+72A= | ENSP00000495389.1:n.4058+72A= | |
| ENST00000647086.1:c.*3893+72A= | ENSP00000493677.1:n.*3893+72A= | |
| ENST00000647158.1:c.*2594+72A= | ENSP00000495744.1:n.*2594+72A= | |
| ENST00000302539.8:c.4310+72A= | ENSP00000303960.4:n.4310+72A= | |
| ENST00000389817.7:c.4307+72A= | ENSP00000374467.3:n.4307+72A= | |
| ENST00000525022.1:n.306+72A= | ||
| ENST00000526037.5:n.171+72A= | ||
| ENST00000526168.5:c.95+72A= | ||
| ENST00000531642.5:c.144-68A= | ||
| NM_000352.4:c.4307+72A= | NP_000343.2:n.4307+72A= | |
| NM_001287174.1:c.4310+72A= | NP_001274103.1:n.4310+72A= | |
| XM_011520331.1:c.4307+72A= | XP_011518633.1:n.4307+72A= | |
| XM_011520332.1:c.4310+72A= | XP_011518634.1:n.4310+72A= | |
| XM_011520333.1:c.2807+72A= | XP_011518635.1:n.2807+72A= | |
| XR_930890.1:n.4373+72A= | ||
| NM_001351295.1:c.4373+72A= | NP_001338224.1:n.4373+72A= | |
| NM_001351296.1:c.4307+72A= | NP_001338225.1:n.4307+72A= | |
| NM_001351297.1:c.4304+72A= | NP_001338226.1:n.4304+72A= | |
| NR_147094.1:n.4602+72A= | ||
| XM_017018197.2:c.4376+72A= | XP_016873686.1:n.4376+72A= | |
| XM_017018199.1:c.4373+72A= | XP_016873688.1:n.4373+72A= | |
| XM_017018201.2:c.4376+72A= | XP_016873690.1:n.4376+72A= | |
| XM_017018202.1:c.2873+72A= | XP_016873691.1:n.2873+72A= | |
| XM_017018204.1:c.2264+72A= | XP_016873693.1:n.2264+72A= | |
| XM_024448668.1:c.2675+72A= | XP_024304436.1:n.2675+72A= | |
| XR_001747945.2:n.4448+72A= | ||
| XR_001747946.2:n.4379+72A= | ||
| XR_002957189.1:n.6162+72A= | ||
| NM_000352.6:c.4307+72A= MANE Select | NP_000343.2:n.4307+72A= | |
| NM_001287174.2:c.4310+72A= | NP_001274103.1:n.4310+72A= | |
| NM_001351295.2:c.4373+72A= | NP_001338224.1:n.4373+72A= | |
| NM_001351296.2:c.4307+72A= | NP_001338225.1:n.4307+72A= | |
| NM_001351297.2:c.4304+72A= | NP_001338226.1:n.4304+72A= | |
| NR_147094.2:n.4602+72A= | ||
| NM_001287174.3:c.4310+72A= | NP_001274103.1:n.4310+72A= |