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_000014.9:g.103417199C= , CM000676.2:g.103417199C= | GRCh38 |
| NC_000014.8:g.103883536C= , CM000676.1:g.103883536C= | GRCh37 |
| NC_000014.7:g.102953289C= | NCBI36 |
| NG_030339.2:g.36836C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429436.7:c.244-11188C= MANE Select | ENSP00000411397.2:n.244-11188C= | |
| ENST00000556744.2:c.244-11188C= | ENSP00000451623.2:n.244-11188C= | |
| ENST00000558223.6:n.859-11188C= | ||
| ENST00000559328.6:n.859-11188C= | ||
| ENST00000560417.6:c.244-11188C= | ENSP00000454169.2:n.244-11188C= | |
| ENST00000560603.6:n.849-11188C= | ||
| ENST00000561164.2:n.859-11188C= | ||
| ENST00000561314.6:c.-75-11188C= | ENSP00000452893.2:n.-75-11188C= | |
| ENST00000676475.1:n.882-11188C= | ||
| ENST00000676518.1:c.*16+5434C= | ENSP00000504240.1:n.*16+5434C= | |
| ENST00000676564.1:c.244-11188C= | ENSP00000504834.1:n.244-11188C= | |
| ENST00000676645.1:c.244-11188C= | ENSP00000504084.1:n.244-11188C= | |
| ENST00000676694.1:c.244-11188C= | ENSP00000503113.1:n.244-11188C= | |
| ENST00000676830.1:c.244-11188C= | ENSP00000503629.1:n.244-11188C= | |
| ENST00000676838.1:c.244-11188C= | ENSP00000504654.1:n.244-11188C= | |
| ENST00000676897.1:c.244-11188C= | ENSP00000503095.1:n.244-11188C= | |
| ENST00000676905.1:c.244-11188C= | ENSP00000503817.1:n.244-11188C= | |
| ENST00000676938.1:c.244-11188C= | ENSP00000503568.1:n.244-11188C= | |
| ENST00000677035.1:c.244-11188C= | ENSP00000503036.1:n.244-11188C= | |
| ENST00000677051.1:c.244-11188C= | ENSP00000504688.1:n.244-11188C= | |
| ENST00000677104.1:c.244-11188C= | ENSP00000503424.1:n.244-11188C= | |
| ENST00000677118.1:c.244-11188C= | ENSP00000502934.1:n.244-11188C= | |
| ENST00000677133.1:c.244-11188C= | ENSP00000503503.1:n.244-11188C= | |
| ENST00000677214.1:n.882-11188C= | ||
| ENST00000677228.1:c.244-11188C= | ENSP00000504082.1:n.244-11188C= | |
| ENST00000677347.1:c.244-11188C= | ENSP00000503320.1:n.244-11188C= | |
| ENST00000677348.1:c.348+5450C= | ENSP00000504856.1:n.348+5450C= | |
| ENST00000677360.1:c.52-11188C= | ENSP00000504622.1:n.52-11188C= | |
| ENST00000677404.1:c.244-11188C= | ENSP00000504191.1:n.244-11188C= | |
| ENST00000677432.1:c.243+11932C= | ENSP00000502999.1:n.243+11932C= | |
| ENST00000677560.1:c.-75-11188C= | ENSP00000504069.1:n.-75-11188C= | |
| ENST00000677604.1:c.*16+5434C= | ENSP00000503441.1:n.*16+5434C= | |
| ENST00000677829.1:c.52-11188C= | ENSP00000503216.1:n.52-11188C= | |
| ENST00000677857.1:c.244-11188C= | ENSP00000503812.1:n.244-11188C= | |
| ENST00000677869.1:c.*16+5434C= | ENSP00000503644.1:n.*16+5434C= | |
| ENST00000677942.1:c.244-11188C= | ENSP00000504212.1:n.244-11188C= | |
| ENST00000678022.1:c.244-11188C= | ENSP00000503622.1:n.244-11188C= | |
| ENST00000678071.1:n.849-11188C= | ||
| ENST00000678091.1:n.43+23395C= | ||
| ENST00000678169.1:c.244-11188C= | ENSP00000504131.1:n.244-11188C= | |
| ENST00000678175.1:c.244-11188C= | ENSP00000504859.1:n.244-11188C= | |
| ENST00000678179.1:c.244-11188C= | ENSP00000503689.1:n.244-11188C= | |
| ENST00000678207.1:c.244-11188C= | ENSP00000503844.1:n.244-11188C= | |
| ENST00000678237.1:c.-48+11932C= | ENSP00000502861.1:n.-48+11932C= | |
| ENST00000678278.1:c.244-11188C= | ENSP00000503551.1:n.244-11188C= | |
| ENST00000678302.1:c.244-11188C= | ENSP00000503018.1:n.244-11188C= | |
| ENST00000678343.1:c.244-11188C= | ENSP00000502973.1:n.244-11188C= | |
| ENST00000678423.1:c.244-11188C= | ENSP00000504088.1:n.244-11188C= | |
| ENST00000678619.1:c.52-11188C= | ENSP00000504493.1:n.52-11188C= | |
| ENST00000678897.1:c.244-11188C= | ENSP00000504537.1:n.244-11188C= | |
| ENST00000678999.1:c.244-11188C= | ENSP00000502944.1:n.244-11188C= | |
| ENST00000679105.1:c.*224-11188C= | ENSP00000504680.1:n.*224-11188C= | |
| ENST00000679330.1:c.244-11188C= | ENSP00000503975.1:n.244-11188C= | |
| ENST00000216288.11:c.244-11188C= | ENSP00000216288.7:n.244-11188C= | |
| ENST00000303622.13:c.244-11188C= | ENSP00000303698.9:n.244-11188C= | |
| ENST00000335102.9:c.244-11188C= | ENSP00000335347.5:n.244-11188C= | |
| ENST00000416682.6:c.244-11188C= | ENSP00000408092.2:n.244-11188C= | |
| ENST00000429436.6:c.244-11188C= | ENSP00000411397.2:n.244-11188C= | |
| ENST00000440884.7:c.244-11188C= | ENSP00000402104.3:n.244-11188C= | |
| ENST00000553942.5:c.244-11188C= | ENSP00000450772.1:n.244-11188C= | |
| ENST00000558223.5:n.270-11188C= | ||
| ENST00000559328.5:n.480-11188C= | ||
| ENST00000560417.5:c.243+11932C= | ENSP00000454169.1:n.243+11932C= | |
| ENST00000560603.5:n.514-11188C= | ||
| ENST00000561071.5:n.135-11188C= | ||
| ENST00000561225.1:c.208-11188C= | ENSP00000452829.1:n.208-11188C= | |
| NM_001128918.2:c.244-11188C= | NP_001122390.2:n.244-11188C= | |
| NM_001128919.2:c.244-11188C= | NP_001122391.2:n.244-11188C= | |
| NM_001128920.2:c.244-11188C= | NP_001122392.2:n.244-11188C= | |
| NM_001128921.2:c.244-11188C= | NP_001122393.2:n.244-11188C= | |
| NM_002376.6:c.244-11188C= | NP_002367.5:n.244-11188C= | |
| XM_005267641.3:c.244-11188C= | XP_005267698.2:n.244-11188C= | |
| XM_005267642.3:c.244-11188C= | XP_005267699.2:n.244-11188C= | |
| XM_005267643.3:c.244-11188C= | XP_005267700.2:n.244-11188C= | |
| XM_006720146.2:c.202-11188C= | XP_006720209.1:n.202-11188C= | |
| XM_011536768.1:c.243+11932C= | XP_011535070.1:n.243+11932C= | |
| XM_011536769.1:c.3+3399C= | XP_011535071.1:n.3+3399C= | |
| XM_011536770.1:c.-75-11188C= | XP_011535072.1:n.-75-11188C= | |
| XM_011536771.1:c.-101-11188C= | XP_011535073.1:n.-101-11188C= | |
| XM_005267641.5:c.244-11188C= | XP_005267698.2:n.244-11188C= | |
| XM_005267642.5:c.244-11188C= | XP_005267699.2:n.244-11188C= | |
| XM_005267643.5:c.244-11188C= | XP_005267700.2:n.244-11188C= | |
| XM_011536769.3:c.3+3399C= | XP_011535071.1:n.3+3399C= | |
| XM_017021291.2:c.244-11188C= | XP_016876780.1:n.244-11188C= | |
| XM_017021292.2:c.244-11188C= | XP_016876781.1:n.244-11188C= | |
| XM_017021293.1:c.202-11188C= | XP_016876782.1:n.202-11188C= | |
| XM_017021294.2:c.52-11188C= | XP_016876783.1:n.52-11188C= | |
| XM_017021295.2:c.52-11188C= | XP_016876784.1:n.52-11188C= | |
| XM_017021296.2:c.52-11188C= | XP_016876785.1:n.52-11188C= | |
| XM_017021297.2:c.52-11188C= | XP_016876786.1:n.52-11188C= | |
| XM_017021298.2:c.52-11188C= | XP_016876787.1:n.52-11188C= | |
| XM_017021299.2:c.52-11188C= | XP_016876788.1:n.52-11188C= | |
| XM_017021301.2:c.-101-11188C= | XP_016876790.1:n.-101-11188C= | |
| XM_017021306.2:c.-157-11188C= | XP_016876795.1:n.-157-11188C= | |
| XM_017021307.2:c.-108-11188C= | XP_016876796.1:n.-108-11188C= | |
| XM_017021308.2:c.-101-11188C= | XP_016876797.1:n.-101-11188C= | |
| XM_024449583.1:c.202-11188C= | XP_024305351.1:n.202-11188C= | |
| XM_024449584.1:c.-101-11188C= | XP_024305352.1:n.-101-11188C= | |
| XM_024449585.1:c.-101-11188C= | XP_024305353.1:n.-101-11188C= | |
| XM_024449586.1:c.-101-11188C= | XP_024305354.1:n.-101-11188C= | |
| XM_024449587.1:c.-101-11188C= | XP_024305355.1:n.-101-11188C= | |
| XM_024449588.1:c.-101-11188C= | XP_024305356.1:n.-101-11188C= | |
| XM_024449589.1:c.-157-11188C= | XP_024305357.1:n.-157-11188C= | |
| XM_024449590.1:c.-157-11188C= | XP_024305358.1:n.-157-11188C= | |
| XM_024449591.1:c.-108-11188C= | XP_024305359.1:n.-108-11188C= | |
| NM_001128918.3:c.244-11188C= MANE Select | NP_001122390.2:n.244-11188C= | |
| NM_001128919.3:c.244-11188C= | NP_001122391.2:n.244-11188C= | |
| NM_001128920.3:c.244-11188C= | NP_001122392.2:n.244-11188C= | |
| NM_001128921.3:c.244-11188C= | NP_001122393.2:n.244-11188C= | |
| NM_002376.7:c.244-11188C= | NP_002367.5:n.244-11188C= |