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.36993676T= , CM000665.2:g.36993676T= | GRCh38 |
| NC_000003.11:g.37035167T= , CM000665.1:g.37035167T= | GRCh37 |
| NC_000003.10:g.37010171T= | NCBI36 |
| NG_007109.2:g.5327T= , LRG_216:g.5327T= | |
| NG_008418.1:g.4629A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413740.2:c.116+13T= | ENSP00000416476.2:n.116+13T= | |
| ENST00000450420.6:c.116+13T= | ENSP00000393006.2:n.116+13T= | |
| ENST00000456676.7:c.116+13T= | ENSP00000416687.3:n.116+13T= | |
| ENST00000458009.6:c.116+13T= | ENSP00000411066.2:n.116+13T= | |
| ENST00000616768.6:c.116+13T= | ENSP00000480669.3:n.116+13T= | |
| ENST00000673673.2:c.116+13T= | ENSP00000500979.2:n.116+13T= | |
| ENST00000231790.8:c.116+13T= MANE Select | ENSP00000231790.3:n.116+13T= | |
| ENST00000432299.6:c.129T= | ENSP00000416783.1:p.Ser43= | |
| ENST00000442249.6:n.131+13T= | ||
| ENST00000673673.1:c.69+13T= | ||
| ENST00000673713.1:n.147+13T= | ||
| ENST00000673715.1:c.116+13T= | ENSP00000501301.1:n.116+13T= | |
| ENST00000673897.1:c.116+13T= | ENSP00000501109.1:n.116+13T= | |
| ENST00000673899.1:c.116+13T= | ENSP00000501030.1:n.116+13T= | |
| ENST00000673947.1:c.116+13T= | ENSP00000501304.1:n.116+13T= | |
| ENST00000673972.1:c.116+13T= | ENSP00000501281.1:n.116+13T= | |
| ENST00000674111.1:c.116+13T= | ENSP00000501162.1:n.116+13T= | |
| ENST00000231790.6:c.116+13T= | ENSP00000231790.2:n.116+13T= | |
| ENST00000432299.5:c.129T= | ENSP00000416783.1:p.Ser43= | |
| ENST00000442249.5:c.116+13T= | ENSP00000387511.1:n.116+13T= | |
| ENST00000454028.5:c.116+13T= | ENSP00000392649.1:n.116+13T= | |
| ENST00000456676.6:c.91+13T= | ||
| ENST00000457004.5:c.116+13T= | ENSP00000407773.1:n.116+13T= | |
| ENST00000536378.5:c.-517+13T= | ENSP00000444286.2:n.-517+13T= | |
| NM_000249.3:c.116+13T= , LRG_216t1:c.116+13T= | NP_000240.1:n.116+13T= | |
| NM_001258271.1:c.116+13T= | NP_001245200.1:n.116+13T= | |
| NM_001258273.1:c.-517+13T= | NP_001245202.1:n.-517+13T= | |
| XM_005265161.1:c.116+13T= | XP_005265218.1:n.116+13T= | |
| XM_005265164.1:c.-603+13T= | XP_005265221.1:n.-603+13T= | |
| NM_001167617.2:c.-388T= | NP_001161089.1:n.-388T= | |
| NM_001167618.2:c.-817T= | NP_001161090.1:n.-817T= | |
| NM_001167619.2:c.-730T= | NP_001161091.1:n.-730T= | |
| NM_001258274.2:c.-967T= | NP_001245203.1:n.-967T= | |
| NM_001354615.1:c.-511+13T= | NP_001341544.1:n.-511+13T= | |
| NM_001354616.1:c.-511+13T= | NP_001341545.1:n.-511+13T= | |
| NM_001354617.1:c.-603+13T= | NP_001341546.1:n.-603+13T= | |
| NM_001354618.1:c.-822T= | NP_001341547.1:n.-822T= | |
| NM_001354619.1:c.-946T= | NP_001341548.1:n.-946T= | |
| NM_001354620.1:c.-169+13T= | NP_001341549.1:n.-169+13T= | |
| NM_001354621.1:c.-915T= | NP_001341550.1:n.-915T= | |
| NM_001354622.1:c.-1028T= | NP_001341551.1:n.-1028T= | |
| NM_001354623.1:c.-937T= | NP_001341552.1:n.-937T= | |
| NM_001354624.1:c.-711+13T= | NP_001341553.1:n.-711+13T= | |
| NM_001354625.1:c.-609+13T= | NP_001341554.1:n.-609+13T= | |
| NM_001354626.1:c.-706+13T= | NP_001341555.1:n.-706+13T= | |
| NM_001354627.1:c.-925T= | NP_001341556.1:n.-925T= | |
| NM_001354628.1:c.116+13T= | NP_001341557.1:n.116+13T= | |
| NM_001354629.1:c.116+13T= | NP_001341558.1:n.116+13T= | |
| NM_001354630.1:c.116+13T= | NP_001341559.1:n.116+13T= | |
| XM_005265161.2:c.116+13T= | XP_005265218.1:n.116+13T= | |
| XM_017006450.2:c.-696+13T= | XP_016861939.1:n.-696+13T= | |
| NM_000249.4:c.116+13T= MANE Select | NP_000240.1:n.116+13T= | |
| NM_001167617.3:c.-388T= | NP_001161089.1:n.-388T= | |
| NM_001167618.3:c.-817T= | NP_001161090.1:n.-817T= | |
| NM_001167619.3:c.-730T= | NP_001161091.1:n.-730T= | |
| NM_001258271.2:c.116+13T= | NP_001245200.1:n.116+13T= | |
| NM_001258273.2:c.-517+13T= | NP_001245202.1:n.-517+13T= | |
| NM_001258274.3:c.-967T= | NP_001245203.1:n.-967T= | |
| NM_001354615.2:c.-511+13T= | NP_001341544.1:n.-511+13T= | |
| NM_001354616.2:c.-511+13T= | NP_001341545.1:n.-511+13T= | |
| NM_001354617.2:c.-603+13T= | NP_001341546.1:n.-603+13T= | |
| NM_001354618.2:c.-822T= | NP_001341547.1:n.-822T= | |
| NM_001354619.2:c.-946T= | NP_001341548.1:n.-946T= | |
| NM_001354620.2:c.-169+13T= | NP_001341549.1:n.-169+13T= | |
| NM_001354621.2:c.-915T= | NP_001341550.1:n.-915T= | |
| NM_001354622.2:c.-1028T= | NP_001341551.1:n.-1028T= | |
| NM_001354623.2:c.-937T= | NP_001341552.1:n.-937T= | |
| NM_001354624.2:c.-711+13T= | NP_001341553.1:n.-711+13T= | |
| NM_001354625.2:c.-609+13T= | NP_001341554.1:n.-609+13T= | |
| NM_001354626.2:c.-706+13T= | NP_001341555.1:n.-706+13T= | |
| NM_001354627.2:c.-925T= | NP_001341556.1:n.-925T= | |
| NM_001354628.2:c.116+13T= | NP_001341557.1:n.116+13T= | |
| NM_001354629.2:c.116+13T= | NP_001341558.1:n.116+13T= | |
| NM_001354630.2:c.116+13T= | NP_001341559.1:n.116+13T= |