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.36993570_36993585del , CM000665.2:g.36993570_36993585del | GRCh38 |
| NC_000003.11:g.37035061_37035076del , CM000665.1:g.37035061_37035076del | GRCh37 |
| NC_000003.10:g.37010065_37010080del | NCBI36 |
| NG_007109.2:g.5221_5236del , LRG_216:g.5221_5236del | |
| NG_008418.1:g.4721_4736del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.23_38del | ENSP00000416476.2:p.Ile8ArgfsTer4 | |
| ENST00000450420.6:c.23_38del | ENSP00000393006.2:p.Ile8ArgfsTer4 | |
| ENST00000456676.7:c.23_38del | ENSP00000416687.3:p.Ile8ArgfsTer4 | |
| ENST00000458009.6:c.23_38del | ENSP00000411066.2:p.Ile8ArgfsTer4 | |
| ENST00000616768.6:c.23_38del | ENSP00000480669.3:p.Ile8ArgfsTer4 | |
| ENST00000673673.2:c.23_38del | ENSP00000500979.2:p.Ile8ArgfsTer4 | |
| ENST00000231790.8:c.23_38del MANE Select | ENSP00000231790.3:p.Ile8ArgfsTer4 | |
| ENST00000432299.6:c.23_38del | ENSP00000416783.1:p.Ile8ArgfsTer4 | |
| ENST00000442249.6:n.38_53del | ||
| ENST00000673713.1:n.54_69del | ||
| ENST00000673715.1:c.23_38del | ENSP00000501301.1:p.Ile8ArgfsTer4 | |
| ENST00000673897.1:c.23_38del | ENSP00000501109.1:p.Ile8ArgfsTer4 | |
| ENST00000673899.1:c.23_38del | ENSP00000501030.1:p.Ile8ArgfsTer4 | |
| ENST00000673947.1:c.23_38del | ENSP00000501304.1:p.Ile8ArgfsTer4 | |
| ENST00000673972.1:c.23_38del | ENSP00000501281.1:p.Ile8ArgfsTer4 | |
| ENST00000674111.1:c.23_38del | ENSP00000501162.1:p.Ile8ArgfsTer4 | |
| ENST00000231790.6:c.23_38del | ENSP00000231790.2:p.Ile8ArgfsTer4 | |
| ENST00000432299.5:c.23_38del | ENSP00000416783.1:p.Ile8ArgfsTer4 | |
| ENST00000442249.5:c.23_38del | ENSP00000387511.1:p.Ile8ArgfsTer4 | |
| ENST00000454028.5:c.23_38del | ENSP00000392649.1:p.Ile8ArgfsTer4 | |
| ENST00000457004.5:c.23_38del | ENSP00000407773.1:p.Ile8ArgfsTer4 | |
| ENST00000536378.5:c.-610_-595del | ENSP00000444286.2:n.-610_-595del | |
| NM_000249.3:c.23_38del , LRG_216t1:c.23_38del | NP_000240.1:p.Ile8ArgfsTer4 | |
| NM_001258271.1:c.23_38del | NP_001245200.1:p.Ile8ArgfsTer4 | |
| NM_001258273.1:c.-610_-595del | NP_001245202.1:n.-610_-595del | |
| XM_005265161.1:c.23_38del | XP_005265218.1:p.Ile8ArgfsTer4 | |
| XM_005265164.1:c.-696_-681del | XP_005265221.1:n.-696_-681del | |
| NM_001167617.2:c.-494_-479del | NP_001161089.1:n.-494_-479del | |
| NM_001167618.2:c.-923_-908del | NP_001161090.1:n.-923_-908del | |
| NM_001167619.2:c.-836_-821del | NP_001161091.1:n.-836_-821del | |
| NM_001258274.2:c.-1073_-1058del | NP_001245203.1:n.-1073_-1058del | |
| NM_001354615.1:c.-604_-589del | NP_001341544.1:n.-604_-589del | |
| NM_001354616.1:c.-604_-589del | NP_001341545.1:n.-604_-589del | |
| NM_001354617.1:c.-696_-681del | NP_001341546.1:n.-696_-681del | |
| NM_001354618.1:c.-928_-913del | NP_001341547.1:n.-928_-913del | |
| NM_001354619.1:c.-1052_-1037del | NP_001341548.1:n.-1052_-1037del | |
| NM_001354620.1:c.-262_-247del | NP_001341549.1:n.-262_-247del | |
| NM_001354621.1:c.-1021_-1006del | NP_001341550.1:n.-1021_-1006del | |
| NM_001354622.1:c.-1134_-1119del | NP_001341551.1:n.-1134_-1119del | |
| NM_001354623.1:c.-1043_-1028del | NP_001341552.1:n.-1043_-1028del | |
| NM_001354624.1:c.-804_-789del | NP_001341553.1:n.-804_-789del | |
| NM_001354625.1:c.-702_-687del | NP_001341554.1:n.-702_-687del | |
| NM_001354626.1:c.-799_-784del | NP_001341555.1:n.-799_-784del | |
| NM_001354627.1:c.-1031_-1016del | NP_001341556.1:n.-1031_-1016del | |
| NM_001354628.1:c.23_38del | NP_001341557.1:p.Ile8ArgfsTer4 | |
| NM_001354629.1:c.23_38del | NP_001341558.1:p.Ile8ArgfsTer4 | |
| NM_001354630.1:c.23_38del | NP_001341559.1:p.Ile8ArgfsTer4 | |
| XM_005265161.2:c.23_38del | XP_005265218.1:p.Ile8ArgfsTer4 | |
| XM_017006450.2:c.-789_-774del | XP_016861939.1:n.-789_-774del | |
| NM_000249.4:c.23_38del MANE Select | NP_000240.1:p.Ile8ArgfsTer4 | |
| NM_001167617.3:c.-494_-479del | NP_001161089.1:n.-494_-479del | |
| NM_001167618.3:c.-923_-908del | NP_001161090.1:n.-923_-908del | |
| NM_001167619.3:c.-836_-821del | NP_001161091.1:n.-836_-821del | |
| NM_001258271.2:c.23_38del | NP_001245200.1:p.Ile8ArgfsTer4 | |
| NM_001258273.2:c.-610_-595del | NP_001245202.1:n.-610_-595del | |
| NM_001258274.3:c.-1073_-1058del | NP_001245203.1:n.-1073_-1058del | |
| NM_001354615.2:c.-604_-589del | NP_001341544.1:n.-604_-589del | |
| NM_001354616.2:c.-604_-589del | NP_001341545.1:n.-604_-589del | |
| NM_001354617.2:c.-696_-681del | NP_001341546.1:n.-696_-681del | |
| NM_001354618.2:c.-928_-913del | NP_001341547.1:n.-928_-913del | |
| NM_001354619.2:c.-1052_-1037del | NP_001341548.1:n.-1052_-1037del | |
| NM_001354620.2:c.-262_-247del | NP_001341549.1:n.-262_-247del | |
| NM_001354621.2:c.-1021_-1006del | NP_001341550.1:n.-1021_-1006del | |
| NM_001354622.2:c.-1134_-1119del | NP_001341551.1:n.-1134_-1119del | |
| NM_001354623.2:c.-1043_-1028del | NP_001341552.1:n.-1043_-1028del | |
| NM_001354624.2:c.-804_-789del | NP_001341553.1:n.-804_-789del | |
| NM_001354625.2:c.-702_-687del | NP_001341554.1:n.-702_-687del | |
| NM_001354626.2:c.-799_-784del | NP_001341555.1:n.-799_-784del | |
| NM_001354627.2:c.-1031_-1016del | NP_001341556.1:n.-1031_-1016del | |
| NM_001354628.2:c.23_38del | NP_001341557.1:p.Ile8ArgfsTer4 | |
| NM_001354629.2:c.23_38del | NP_001341558.1:p.Ile8ArgfsTer4 | |
| NM_001354630.2:c.23_38del | NP_001341559.1:p.Ile8ArgfsTer4 |