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_000008.11:g.67158364T= , CM000670.2:g.67158364T= | GRCh38 |
| NC_000008.10:g.68070599T= , CM000670.1:g.68070599T= | GRCh37 |
| NC_000008.9:g.68233153T= | NCBI36 |
| NG_034100.1:g.98997T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262210.11:c.2308-83T= | ENSP00000262210.6:n.2308-83T= | |
| ENST00000521324.3:c.114-83T= | ||
| ENST00000674993.1:c.2332-83T= | ENSP00000502454.1:n.2332-83T= | |
| ENST00000675306.2:c.1966-83T= | ENSP00000502421.1:n.1966-83T= | |
| ENST00000675869.1:c.2047-83T= | ENSP00000502747.1:n.2047-83T= | |
| ENST00000675955.1:c.2161-83T= | ENSP00000501676.1:n.2161-83T= | |
| ENST00000675990.1:n.3488T= | ||
| ENST00000676113.1:c.2200-83T= | ENSP00000501645.1:n.2200-83T= | |
| ENST00000676317.1:c.2227-83T= | ENSP00000502047.1:n.2227-83T= | |
| ENST00000676471.1:c.1975-83T= | ENSP00000503711.1:n.1975-83T= | |
| ENST00000676534.1:n.5168-83T= | ||
| ENST00000676567.1:c.*866-83T= | ENSP00000503427.1:n.*866-83T= | |
| ENST00000676573.1:c.1543-83T= | ENSP00000504532.1:n.1543-83T= | |
| ENST00000676605.1:c.2350-83T= | ENSP00000503605.1:n.2350-83T= | |
| ENST00000676695.1:c.2168-83T= | ENSP00000503292.1:n.2168-83T= | |
| ENST00000676697.1:n.3103-83T= | ||
| ENST00000676804.1:c.545-83T= | ||
| ENST00000676847.1:c.2221-83T= | ENSP00000503336.1:n.2221-83T= | |
| ENST00000676858.1:c.*203-83T= | ENSP00000502925.1:n.*203-83T= | |
| ENST00000676882.1:c.2128-83T= | ENSP00000504342.1:n.2128-83T= | |
| ENST00000676968.1:c.114-83T= | ||
| ENST00000677009.1:c.2227-83T= | ENSP00000503297.1:n.2227-83T= | |
| ENST00000677052.1:n.1740-83T= | ||
| ENST00000677131.1:c.114-83T= | ||
| ENST00000677256.1:c.*1961-83T= | ENSP00000504102.1:n.*1961-83T= | |
| ENST00000677430.1:c.2161-83T= | ENSP00000504177.1:n.2161-83T= | |
| ENST00000677455.1:n.2115-83T= | ||
| ENST00000677473.1:c.*258-83T= | ENSP00000503534.1:n.*258-83T= | |
| ENST00000677592.1:c.2209-83T= | ENSP00000504516.1:n.2209-83T= | |
| ENST00000677619.1:c.1588-83T= | ENSP00000504522.1:n.1588-83T= | |
| ENST00000677697.1:n.127T= | ||
| ENST00000677845.1:c.*613-83T= | ENSP00000503524.1:n.*613-83T= | |
| ENST00000677855.1:c.1550-83T= | ENSP00000504757.1:n.1550-83T= | |
| ENST00000677964.1:c.114-83T= | ||
| ENST00000678017.1:c.1093-83T= | ENSP00000504394.1:n.1093-83T= | |
| ENST00000678138.1:n.2405-83T= | ||
| ENST00000678156.1:n.1882-83T= | ||
| ENST00000678318.1:c.1777-83T= | ENSP00000503690.1:n.1777-83T= | |
| ENST00000678362.1:c.*1019-83T= | ENSP00000504317.1:n.*1019-83T= | |
| ENST00000678542.1:c.2350-83T= | ENSP00000503878.1:n.2350-83T= | |
| ENST00000678616.1:c.2242-83T= MANE Select | ENSP00000504733.1:n.2242-83T= | |
| ENST00000678635.1:n.737-83T= | ||
| ENST00000678645.1:c.2119-83T= | ENSP00000504031.1:n.2119-83T= | |
| ENST00000678723.1:c.114-83T= | ||
| ENST00000678747.1:c.1669-83T= | ENSP00000503390.1:n.1669-83T= | |
| ENST00000678807.1:n.1277-83T= | ||
| ENST00000678895.1:c.114-83T= | ||
| ENST00000679042.1:n.3067-83T= | ||
| ENST00000679112.1:c.*2141-83T= | ENSP00000503739.1:n.*2141-83T= | |
| ENST00000679226.1:c.1966-83T= | ENSP00000503601.1:n.1966-83T= | |
| ENST00000679274.1:n.1166-83T= | ||
| ENST00000679295.1:n.1213-83T= | ||
| ENST00000262210.9:c.2227-83T= | ENSP00000262210.5:n.2227-83T= | |
| ENST00000519163.6:c.*2493-83T= | ENSP00000428694.1:n.*2493-83T= | |
| ENST00000519668.1:c.1192-83T= | ENSP00000430092.1:n.1192-83T= | |
| ENST00000521168.5:n.232-83T= | ||
| NM_001291339.1:c.1192-83T= | NP_001278268.1:n.1192-83T= | |
| NM_024790.6:c.2227-83T= | NP_079066.5:n.2227-83T= | |
| XM_005251305.3:c.2470-83T= | XP_005251362.2:n.2470-83T= | |
| XM_006716474.2:c.2317-83T= | XP_006716537.2:n.2317-83T= | |
| XM_006716477.2:c.1939-83T= | XP_006716540.2:n.1939-83T= | |
| XM_011517598.1:c.2512-83T= | XP_011515900.1:n.2512-83T= | |
| XM_011517599.1:c.2488-83T= | XP_011515901.1:n.2488-83T= | |
| XM_011517600.1:c.2446-83T= | XP_011515902.1:n.2446-83T= | |
| XM_011517601.1:c.2407-83T= | XP_011515903.1:n.2407-83T= | |
| XM_011517602.1:c.2365-83T= | XP_011515904.1:n.2365-83T= | |
| XM_011517603.1:c.2266-83T= | XP_011515905.1:n.2266-83T= | |
| XM_011517604.1:c.2266-83T= | XP_011515906.1:n.2266-83T= | |
| XM_011517605.1:c.2266-83T= | XP_011515907.1:n.2266-83T= | |
| XM_011517606.1:c.2242-83T= | XP_011515908.1:n.2242-83T= | |
| XM_011517607.1:c.2242-83T= | XP_011515909.1:n.2242-83T= | |
| XM_011517608.1:c.2161-83T= | XP_011515910.1:n.2161-83T= | |
| XM_011517609.1:c.1387-83T= | XP_011515911.1:n.1387-83T= | |
| XM_011517610.1:c.907-83T= | XP_011515912.1:n.907-83T= | |
| XM_011517611.1:c.547-83T= | XP_011515913.1:n.547-83T= | |
| NM_001363131.1:c.2161-83T= | NP_001350060.1:n.2161-83T= | |
| NM_001363132.1:c.2047-83T= | NP_001350061.1:n.2047-83T= | |
| NM_001363133.1:c.1966-83T= | NP_001350062.1:n.1966-83T= | |
| NM_001364869.1:c.2308-83T= | NP_001351798.1:n.2308-83T= | |
| NM_001364870.1:c.2128-83T= | NP_001351799.1:n.2128-83T= | |
| XM_005251305.4:c.2470-83T= | XP_005251362.2:n.2470-83T= | |
| XM_006716474.3:c.2317-83T= | XP_006716537.2:n.2317-83T= | |
| XM_006716477.3:c.1939-83T= | XP_006716540.2:n.1939-83T= | |
| XM_011517598.2:c.2512-83T= | XP_011515900.1:n.2512-83T= | |
| XM_011517599.2:c.2488-83T= | XP_011515901.1:n.2488-83T= | |
| XM_011517600.2:c.2446-83T= | XP_011515902.1:n.2446-83T= | |
| XM_011517601.2:c.2407-83T= | XP_011515903.1:n.2407-83T= | |
| XM_011517602.2:c.2365-83T= | XP_011515904.1:n.2365-83T= | |
| XM_011517603.2:c.2266-83T= | XP_011515905.1:n.2266-83T= | |
| XM_011517607.2:c.2242-83T= | XP_011515909.1:n.2242-83T= | |
| XM_011517609.2:c.1387-83T= | XP_011515911.1:n.1387-83T= | |
| XM_011517611.3:c.547-83T= | XP_011515913.1:n.547-83T= | |
| XM_017013847.2:c.2371-83T= | XP_016869336.1:n.2371-83T= | |
| XM_017013848.2:c.2347-83T= | XP_016869337.1:n.2347-83T= | |
| XM_017013849.2:c.2308-83T= | XP_016869338.1:n.2308-83T= | |
| XM_017013850.2:c.2266-83T= | XP_016869339.1:n.2266-83T= | |
| XM_017013851.2:c.2119-83T= | XP_016869340.1:n.2119-83T= | |
| XM_017013852.2:c.2113-83T= | XP_016869341.1:n.2113-83T= | |
| XM_017013854.2:c.1915-83T= | XP_016869343.1:n.1915-83T= | |
| XM_017013855.2:c.1681-83T= | XP_016869344.1:n.1681-83T= | |
| XM_017013856.2:c.1588-83T= | XP_016869345.1:n.1588-83T= | |
| XM_017013858.2:c.754-83T= | XP_016869347.1:n.754-83T= | |
| XM_024447278.1:c.2242-83T= | XP_024303046.1:n.2242-83T= | |
| XM_024447279.1:c.2161-83T= | XP_024303047.1:n.2161-83T= | |
| XM_024447281.1:c.1966-83T= | XP_024303049.1:n.1966-83T= | |
| XM_024447282.1:c.1669-83T= | XP_024303050.1:n.1669-83T= | |
| XM_024447283.1:c.1345-83T= | XP_024303051.1:n.1345-83T= | |
| XM_024447284.1:c.907-83T= | XP_024303052.1:n.907-83T= | |
| NM_001363131.2:c.2161-83T= | NP_001350060.1:n.2161-83T= | |
| NM_001363132.2:c.2047-83T= | NP_001350061.1:n.2047-83T= | |
| NM_001363133.2:c.1966-83T= | NP_001350062.1:n.1966-83T= | |
| NM_001291339.2:c.1192-83T= | NP_001278268.1:n.1192-83T= | |
| NM_001382391.1:c.2242-83T= MANE Select | NP_001369320.1:n.2242-83T= |