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_000003.12:g.36993573_36993574delinsAT , CM000665.2:g.36993573_36993574delinsAT | GRCh38 |
| NC_000003.11:g.37035064_37035065delinsAT , CM000665.1:g.37035064_37035065delinsAT | GRCh37 |
| NC_000003.10:g.37010068_37010069delinsAT | NCBI36 |
| NG_007109.2:g.5224_5225delinsAT , LRG_216:g.5224_5225delinsAT | |
| NG_008418.1:g.4731_4732delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.26_27delinsAT | ENSP00000416476.2:p.Arg9His | |
| ENST00000450420.6:c.26_27delinsAT | ENSP00000393006.2:p.Arg9His | |
| ENST00000456676.7:c.26_27delinsAT | ENSP00000416687.3:p.Arg9His | |
| ENST00000458009.6:c.26_27delinsAT | ENSP00000411066.2:p.Arg9His | |
| ENST00000616768.6:c.26_27delinsAT | ENSP00000480669.3:p.Arg9His | |
| ENST00000673673.2:c.26_27delinsAT | ENSP00000500979.2:p.Arg9His | |
| ENST00000231790.8:c.26_27delinsAT MANE Select | ENSP00000231790.3:p.Arg9His | |
| ENST00000432299.6:c.26_27delinsAT | ENSP00000416783.1:p.Arg9His | |
| ENST00000442249.6:n.41_42delinsAT | ||
| ENST00000673713.1:n.57_58delinsAT | ||
| ENST00000673715.1:c.26_27delinsAT | ENSP00000501301.1:p.Arg9His | |
| ENST00000673897.1:c.26_27delinsAT | ENSP00000501109.1:p.Arg9His | |
| ENST00000673899.1:c.26_27delinsAT | ENSP00000501030.1:p.Arg9His | |
| ENST00000673947.1:c.26_27delinsAT | ENSP00000501304.1:p.Arg9His | |
| ENST00000673972.1:c.26_27delinsAT | ENSP00000501281.1:p.Arg9His | |
| ENST00000674111.1:c.26_27delinsAT | ENSP00000501162.1:p.Arg9His | |
| ENST00000231790.6:c.26_27delinsAT | ENSP00000231790.2:p.Arg9His | |
| ENST00000432299.5:c.26_27delinsAT | ENSP00000416783.1:p.Arg9His | |
| ENST00000442249.5:c.26_27delinsAT | ENSP00000387511.1:p.Arg9His | |
| ENST00000454028.5:c.26_27delinsAT | ENSP00000392649.1:p.Arg9His | |
| ENST00000456676.6:c.1_2delinsAT | ||
| ENST00000457004.5:c.26_27delinsAT | ENSP00000407773.1:p.Arg9His | |
| ENST00000536378.5:c.-607_-606delinsAT | ENSP00000444286.2:n.-607_-606delinsAT | |
| NM_000249.3:c.26_27delinsAT , LRG_216t1:c.26_27delinsAT | NP_000240.1:p.Arg9His | |
| NM_001258271.1:c.26_27delinsAT | NP_001245200.1:p.Arg9His | |
| NM_001258273.1:c.-607_-606delinsAT | NP_001245202.1:n.-607_-606delinsAT | |
| XM_005265161.1:c.26_27delinsAT | XP_005265218.1:p.Arg9His | |
| XM_005265164.1:c.-693_-692delinsAT | XP_005265221.1:n.-693_-692delinsAT | |
| NM_001167617.2:c.-491_-490delinsAT | NP_001161089.1:n.-491_-490delinsAT | |
| NM_001167618.2:c.-920_-919delinsAT | NP_001161090.1:n.-920_-919delinsAT | |
| NM_001167619.2:c.-833_-832delinsAT | NP_001161091.1:n.-833_-832delinsAT | |
| NM_001258274.2:c.-1070_-1069delinsAT | NP_001245203.1:n.-1070_-1069delinsAT | |
| NM_001354615.1:c.-601_-600delinsAT | NP_001341544.1:n.-601_-600delinsAT | |
| NM_001354616.1:c.-601_-600delinsAT | NP_001341545.1:n.-601_-600delinsAT | |
| NM_001354617.1:c.-693_-692delinsAT | NP_001341546.1:n.-693_-692delinsAT | |
| NM_001354618.1:c.-925_-924delinsAT | NP_001341547.1:n.-925_-924delinsAT | |
| NM_001354619.1:c.-1049_-1048delinsAT | NP_001341548.1:n.-1049_-1048delinsAT | |
| NM_001354620.1:c.-259_-258delinsAT | NP_001341549.1:n.-259_-258delinsAT | |
| NM_001354621.1:c.-1018_-1017delinsAT | NP_001341550.1:n.-1018_-1017delinsAT | |
| NM_001354622.1:c.-1131_-1130delinsAT | NP_001341551.1:n.-1131_-1130delinsAT | |
| NM_001354623.1:c.-1040_-1039delinsAT | NP_001341552.1:n.-1040_-1039delinsAT | |
| NM_001354624.1:c.-801_-800delinsAT | NP_001341553.1:n.-801_-800delinsAT | |
| NM_001354625.1:c.-699_-698delinsAT | NP_001341554.1:n.-699_-698delinsAT | |
| NM_001354626.1:c.-796_-795delinsAT | NP_001341555.1:n.-796_-795delinsAT | |
| NM_001354627.1:c.-1028_-1027delinsAT | NP_001341556.1:n.-1028_-1027delinsAT | |
| NM_001354628.1:c.26_27delinsAT | NP_001341557.1:p.Arg9His | |
| NM_001354629.1:c.26_27delinsAT | NP_001341558.1:p.Arg9His | |
| NM_001354630.1:c.26_27delinsAT | NP_001341559.1:p.Arg9His | |
| XM_005265161.2:c.26_27delinsAT | XP_005265218.1:p.Arg9His | |
| XM_017006450.2:c.-786_-785delinsAT | XP_016861939.1:n.-786_-785delinsAT | |
| NM_000249.4:c.26_27delinsAT MANE Select | NP_000240.1:p.Arg9His | |
| NM_001167617.3:c.-491_-490delinsAT | NP_001161089.1:n.-491_-490delinsAT | |
| NM_001167618.3:c.-920_-919delinsAT | NP_001161090.1:n.-920_-919delinsAT | |
| NM_001167619.3:c.-833_-832delinsAT | NP_001161091.1:n.-833_-832delinsAT | |
| NM_001258271.2:c.26_27delinsAT | NP_001245200.1:p.Arg9His | |
| NM_001258273.2:c.-607_-606delinsAT | NP_001245202.1:n.-607_-606delinsAT | |
| NM_001258274.3:c.-1070_-1069delinsAT | NP_001245203.1:n.-1070_-1069delinsAT | |
| NM_001354615.2:c.-601_-600delinsAT | NP_001341544.1:n.-601_-600delinsAT | |
| NM_001354616.2:c.-601_-600delinsAT | NP_001341545.1:n.-601_-600delinsAT | |
| NM_001354617.2:c.-693_-692delinsAT | NP_001341546.1:n.-693_-692delinsAT | |
| NM_001354618.2:c.-925_-924delinsAT | NP_001341547.1:n.-925_-924delinsAT | |
| NM_001354619.2:c.-1049_-1048delinsAT | NP_001341548.1:n.-1049_-1048delinsAT | |
| NM_001354620.2:c.-259_-258delinsAT | NP_001341549.1:n.-259_-258delinsAT | |
| NM_001354621.2:c.-1018_-1017delinsAT | NP_001341550.1:n.-1018_-1017delinsAT | |
| NM_001354622.2:c.-1131_-1130delinsAT | NP_001341551.1:n.-1131_-1130delinsAT | |
| NM_001354623.2:c.-1040_-1039delinsAT | NP_001341552.1:n.-1040_-1039delinsAT | |
| NM_001354624.2:c.-801_-800delinsAT | NP_001341553.1:n.-801_-800delinsAT | |
| NM_001354625.2:c.-699_-698delinsAT | NP_001341554.1:n.-699_-698delinsAT | |
| NM_001354626.2:c.-796_-795delinsAT | NP_001341555.1:n.-796_-795delinsAT | |
| NM_001354627.2:c.-1028_-1027delinsAT | NP_001341556.1:n.-1028_-1027delinsAT | |
| NM_001354628.2:c.26_27delinsAT | NP_001341557.1:p.Arg9His | |
| NM_001354629.2:c.26_27delinsAT | NP_001341558.1:p.Arg9His | |
| NM_001354630.2:c.26_27delinsAT | NP_001341559.1:p.Arg9His |