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.37014460_37014479del , CM000665.2:g.37014460_37014479del | GRCh38 |
| NC_000003.11:g.37055951_37055970del , CM000665.1:g.37055951_37055970del | GRCh37 |
| NC_000003.10:g.37030955_37030974del | NCBI36 |
| NG_007109.2:g.26111_26130del , LRG_216:g.26111_26130del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.706_725del | ENSP00000416476.2:p.Lys236GlufsTer? | |
| ENST00000429117.6:c.412_431del | ENSP00000407019.2:p.Lys138GlufsTer? | |
| ENST00000450420.6:c.706_725del | ENSP00000393006.2:p.Lys236GlufsTer? | |
| ENST00000456676.7:c.706_725del | ENSP00000416687.3:p.Lys236GlufsTer? | |
| ENST00000458009.6:c.706_725del | ENSP00000411066.2:p.Lys236GlufsTer? | |
| ENST00000492474.6:c.-18_2del | ENSP00000518393.1:n.-18_2del | |
| ENST00000616768.6:c.706_725del | ENSP00000480669.3:p.Lys236GlufsTer? | |
| ENST00000673673.2:c.706_725del | ENSP00000500979.2:p.Lys236GlufsTer? | |
| ENST00000231790.8:c.706_725del MANE Select | ENSP00000231790.3:p.Lys236GlufsTer? | |
| ENST00000413212.2:c.-18_2del | ENSP00000400844.2:n.-18_2del | |
| ENST00000432299.6:c.*786_*805del | ENSP00000416783.1:n.*786_*805del | |
| ENST00000441265.6:c.-18_2del | ENSP00000398392.2:n.-18_2del | |
| ENST00000442249.6:n.692+2361_692+2380del | ||
| ENST00000447829.6:c.343_362del | ENSP00000399329.2:p.Lys115GlufsTer? | |
| ENST00000539477.6:c.-18_2del | ENSP00000443665.1:n.-18_2del | |
| ENST00000673673.1:c.659_678del | ||
| ENST00000673713.1:n.737_756del | ||
| ENST00000673715.1:c.706_725del | ENSP00000501301.1:p.Lys236GlufsTer? | |
| ENST00000673897.1:c.*498_*517del | ENSP00000501109.1:n.*498_*517del | |
| ENST00000673899.1:c.677+2361_677+2380del | ENSP00000501030.1:n.677+2361_677+2380del | |
| ENST00000673947.1:c.*846_*865del | ENSP00000501304.1:n.*846_*865del | |
| ENST00000673972.1:c.*584_*603del | ENSP00000501281.1:n.*584_*603del | |
| ENST00000673990.1:n.691_710del | ||
| ENST00000674019.1:c.-18_2del | ENSP00000501081.1:n.-18_2del | |
| ENST00000674107.1:n.648_667del | ||
| ENST00000674111.1:c.706_725del | ENSP00000501162.1:p.Lys236GlufsTer? | |
| ENST00000231790.6:c.706_725del | ENSP00000231790.2:p.Lys236GlufsTer? | |
| ENST00000413212.1:c.29_48del | ||
| ENST00000435176.5:c.412_431del | ENSP00000402564.1:p.Lys138GlufsTer? | |
| ENST00000441265.5:c.-18_2del | ENSP00000398392.1:n.-18_2del | |
| ENST00000447829.5:c.87_106del | ||
| ENST00000455445.6:c.-18_2del | ENSP00000398272.2:n.-18_2del | |
| ENST00000456676.6:c.681_700del | ||
| ENST00000457004.5:c.*485_*504del | ENSP00000407773.1:n.*485_*504del | |
| ENST00000458009.5:c.47_66del | ||
| ENST00000458205.6:c.-18_2del | ENSP00000402667.2:n.-18_2del | |
| ENST00000536378.5:c.-18_2del | ENSP00000444286.2:n.-18_2del | |
| ENST00000539477.5:c.-18_2del | ENSP00000443665.1:n.-18_2del | |
| NM_000249.3:c.706_725del , LRG_216t1:c.706_725del | NP_000240.1:p.Lys236GlufsTer? | |
| NM_001167617.1:c.412_431del | NP_001161089.1:p.Lys138GlufsTer? | |
| NM_001167618.1:c.-18_2del | NP_001161090.1:n.-18_2del | |
| NM_001167619.1:c.-18_2del | NP_001161091.1:n.-18_2del | |
| NM_001258271.1:c.706_725del | NP_001245200.1:p.Lys236GlufsTer? | |
| NM_001258273.1:c.-18_2del | NP_001245202.1:n.-18_2del | |
| NM_001258274.1:c.-18_2del | NP_001245203.1:n.-18_2del | |
| XM_005265161.1:c.677+2361_677+2380del | XP_005265218.1:n.677+2361_677+2380del | |
| XM_005265163.1:c.-18_2del | XP_005265220.1:n.-18_2del | |
| XM_005265164.1:c.-18_2del | XP_005265221.1:n.-18_2del | |
| XM_005265166.1:c.-224_-205del | XP_005265223.1:n.-224_-205del | |
| XM_011533727.1:c.-121_-102del | XP_011532029.1:n.-121_-102del | |
| NM_001167617.2:c.412_431del | NP_001161089.1:p.Lys138GlufsTer? | |
| NM_001167618.2:c.-18_2del | NP_001161090.1:n.-18_2del | |
| NM_001167619.2:c.-18_2del | NP_001161091.1:n.-18_2del | |
| NM_001258274.2:c.-18_2del | NP_001245203.1:n.-18_2del | |
| NM_001354615.1:c.-18_2del | NP_001341544.1:n.-18_2del | |
| NM_001354616.1:c.-18_2del | NP_001341545.1:n.-18_2del | |
| NM_001354617.1:c.-18_2del | NP_001341546.1:n.-18_2del | |
| NM_001354618.1:c.-18_2del | NP_001341547.1:n.-18_2del | |
| NM_001354619.1:c.-18_2del | NP_001341548.1:n.-18_2del | |
| NM_001354620.1:c.412_431del | NP_001341549.1:p.Lys138GlufsTer? | |
| NM_001354621.1:c.-140+2361_-140+2380del | NP_001341550.1:n.-140+2361_-140+2380del | |
| NM_001354622.1:c.-224_-205del | NP_001341551.1:n.-224_-205del | |
| NM_001354623.1:c.-224_-205del | NP_001341552.1:n.-224_-205del | |
| NM_001354624.1:c.-121_-102del | NP_001341553.1:n.-121_-102del | |
| NM_001354625.1:c.-121_-102del | NP_001341554.1:n.-121_-102del | |
| NM_001354626.1:c.-121_-102del | NP_001341555.1:n.-121_-102del | |
| NM_001354627.1:c.-121_-102del | NP_001341556.1:n.-121_-102del | |
| NM_001354628.1:c.706_725del | NP_001341557.1:p.Lys236GlufsTer? | |
| NM_001354629.1:c.607_626del | NP_001341558.1:p.Lys203GlufsTer? | |
| NM_001354630.1:c.706_725del | NP_001341559.1:p.Lys236GlufsTer? | |
| XM_005265161.2:c.677+2361_677+2380del | XP_005265218.1:n.677+2361_677+2380del | |
| XM_017006450.2:c.-140+2361_-140+2380del | XP_016861939.1:n.-140+2361_-140+2380del | |
| NM_000249.4:c.706_725del MANE Select | NP_000240.1:p.Lys236GlufsTer? | |
| NM_001167617.3:c.412_431del | NP_001161089.1:p.Lys138GlufsTer? | |
| NM_001167618.3:c.-18_2del | NP_001161090.1:n.-18_2del | |
| NM_001167619.3:c.-18_2del | NP_001161091.1:n.-18_2del | |
| NM_001258271.2:c.706_725del | NP_001245200.1:p.Lys236GlufsTer? | |
| NM_001258273.2:c.-18_2del | NP_001245202.1:n.-18_2del | |
| NM_001258274.3:c.-18_2del | NP_001245203.1:n.-18_2del | |
| NM_001354615.2:c.-18_2del | NP_001341544.1:n.-18_2del | |
| NM_001354616.2:c.-18_2del | NP_001341545.1:n.-18_2del | |
| NM_001354617.2:c.-18_2del | NP_001341546.1:n.-18_2del | |
| NM_001354618.2:c.-18_2del | NP_001341547.1:n.-18_2del | |
| NM_001354619.2:c.-18_2del | NP_001341548.1:n.-18_2del | |
| NM_001354620.2:c.412_431del | NP_001341549.1:p.Lys138GlufsTer? | |
| NM_001354621.2:c.-140+2361_-140+2380del | NP_001341550.1:n.-140+2361_-140+2380del | |
| NM_001354622.2:c.-224_-205del | NP_001341551.1:n.-224_-205del | |
| NM_001354623.2:c.-224_-205del | NP_001341552.1:n.-224_-205del | |
| NM_001354624.2:c.-121_-102del | NP_001341553.1:n.-121_-102del | |
| NM_001354625.2:c.-121_-102del | NP_001341554.1:n.-121_-102del | |
| NM_001354626.2:c.-121_-102del | NP_001341555.1:n.-121_-102del | |
| NM_001354627.2:c.-121_-102del | NP_001341556.1:n.-121_-102del | |
| NM_001354628.2:c.706_725del | NP_001341557.1:p.Lys236GlufsTer? | |
| NM_001354629.2:c.607_626del | NP_001341558.1:p.Lys203GlufsTer? | |
| NM_001354630.2:c.706_725del | NP_001341559.1:p.Lys236GlufsTer? |