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.
Linked Data
gnomAD v4:
8-144359837-AGCACTGGCCTTTGTGCTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144359846_144359863del , CM000670.2:g.144359846_144359863del | GRCh38 |
| NC_000008.10:g.145583506_145583523del , CM000670.1:g.145583506_145583523del | GRCh37 |
| NC_000008.9:g.145554314_145554331del | NCBI36 |
| NG_032872.1:g.6290_6307del | |
| NG_032872.2:g.6290_6307del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329994.7:c.354_371del | ENSP00000333638.2:p.Phe119_Ala124del | |
| ENST00000526338.7:c.131-269_131-252del | ENSP00000433583.3:n.131-269_131-252del | |
| ENST00000526752.3:c.130+423_130+440del | ENSP00000433796.1:n.130+423_130+440del | |
| ENST00000526779.3:c.255+99_255+116del | ENSP00000436917.1:n.255+99_255+116del | |
| ENST00000526891.2:c.90_107del | ENSP00000502670.1:p.Phe31_Ala36del | |
| ENST00000527078.6:c.354_371del | ENSP00000434728.1:p.Phe119_Ala124del | |
| ENST00000532815.2:c.354_371del | ENSP00000501933.1:p.Phe119_Ala124del | |
| ENST00000533662.2:c.354_371del | ENSP00000502274.1:p.Phe119_Ala124del | |
| ENST00000534725.6:c.354_371del | ENSP00000431965.2:p.Phe119_Ala124del | |
| ENST00000643944.2:c.354_371del MANE Select | ENSP00000496184.2:p.Phe119_Ala124del | |
| ENST00000674779.1:c.234+120_234+137del | ENSP00000501929.1:n.234+120_234+137del | |
| ENST00000674821.1:c.*158_*175del | ENSP00000502219.1:n.*158_*175del | |
| ENST00000674870.1:c.354_371del | ENSP00000502406.1:p.Phe119_Ala124del | |
| ENST00000674929.1:c.131-269_131-252del | ENSP00000501554.1:n.131-269_131-252del | |
| ENST00000675121.1:c.354_371del | ENSP00000501993.1:p.Phe119_Ala124del | |
| ENST00000675280.1:c.354_371del | ENSP00000502796.1:p.Phe119_Ala124del | |
| ENST00000675292.1:c.354_371del | ENSP00000502652.1:p.Phe119_Ala124del | |
| ENST00000675597.1:c.131-269_131-252del | ENSP00000501973.1:n.131-269_131-252del | |
| ENST00000675787.1:c.354_371del | ENSP00000502189.1:p.Phe119_Ala124del | |
| ENST00000675888.1:c.354_371del | ENSP00000502294.1:p.Phe119_Ala124del | |
| ENST00000676094.1:c.131-326_131-309del | ENSP00000502066.1:n.131-326_131-309del | |
| ENST00000676358.1:c.255+99_255+116del | ENSP00000501821.1:n.255+99_255+116del | |
| ENST00000329994.6:c.354_371del | ENSP00000333638.2:p.Phe119_Ala124del | |
| ENST00000402965.5:c.354_371del | ENSP00000385961.1:p.Phe119_Ala124del | |
| ENST00000526338.5:c.131-269_131-252del | ENSP00000433583.1:n.131-269_131-252del | |
| ENST00000526752.1:c.130+423_130+440del | ENSP00000433796.1:n.130+423_130+440del | |
| ENST00000526779.1:c.255+99_255+116del | ENSP00000436917.1:n.255+99_255+116del | |
| ENST00000526891.1:n.437_454del | ||
| ENST00000527078.5:c.354_371del | ENSP00000434728.1:p.Phe119_Ala124del | |
| ENST00000530047.5:c.354_371del | ENSP00000435820.1:p.Phe119_Ala124del | |
| ENST00000532887.5:c.354_371del | ENSP00000436768.1:p.Phe119_Ala124del | |
| ENST00000533662.1:n.1053_1070del | ||
| ENST00000534725.5:c.354_371del | ENSP00000431965.1:p.Phe119_Ala124del | |
| NM_001253815.1:c.354_371del | NP_001240744.1:p.Phe119_Ala124del | |
| NM_001253816.1:c.354_371del | NP_001240745.1:p.Phe119_Ala124del | |
| NM_024531.4:c.354_371del | NP_078807.1:p.Phe119_Ala124del | |
| NR_045600.1:n.846_863del | ||
| XM_006716658.1:c.354_371del | XP_006716721.1:p.Phe119_Ala124del | |
| XM_006716659.1:c.354_371del | XP_006716722.1:p.Phe119_Ala124del | |
| XM_006716660.1:c.354_371del | XP_006716723.1:p.Phe119_Ala124del | |
| XM_011517300.1:c.90_107del | XP_011515602.1:p.Phe31_Ala36del | |
| NM_001363118.1:c.354_371del | NP_001350047.1:p.Phe119_Ala124del | |
| NM_001363120.1:c.354_371del | NP_001350049.1:p.Phe119_Ala124del | |
| NM_001363121.1:c.354_371del | NP_001350050.1:p.Phe119_Ala124del | |
| NM_001363122.1:c.131-269_131-252del | NP_001350051.1:n.131-269_131-252del | |
| XM_011517300.2:c.90_107del | XP_011515602.1:p.Phe31_Ala36del | |
| XM_017013821.1:c.131-269_131-252del | XP_016869310.1:n.131-269_131-252del | |
| XM_017013822.1:c.131-269_131-252del | XP_016869311.1:n.131-269_131-252del | |
| NM_001253815.2:c.354_371del | NP_001240744.1:p.Phe119_Ala124del | |
| NM_001253816.2:c.354_371del | NP_001240745.1:p.Phe119_Ala124del | |
| NM_001363118.2:c.354_371del MANE Select | NP_001350047.1:p.Phe119_Ala124del | |
| NM_001363120.2:c.354_371del | NP_001350049.1:p.Phe119_Ala124del | |
| NM_001363121.2:c.354_371del | NP_001350050.1:p.Phe119_Ala124del | |
| NM_001363122.2:c.131-269_131-252del | NP_001350051.1:n.131-269_131-252del | |
| NM_024531.5:c.354_371del | NP_078807.1:p.Phe119_Ala124del | |
| NR_045600.2:n.814_831del |