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_000001.11:g.45332243_45332251del , CM000663.2:g.45332243_45332251del | GRCh38 |
| NC_000001.10:g.45797915_45797923del , CM000663.1:g.45797915_45797923del | GRCh37 |
| NC_000001.9:g.45570502_45570510del | NCBI36 |
| NG_008189.1:g.13220_13228del , LRG_220:g.13220_13228del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.380_388del | ENSP00000410263.2:p.Met127_Gly130delinsArg | |
| ENST00000435155.2:c.797_805del | ENSP00000403655.2:p.Met266_Gly269delinsArg | |
| ENST00000467459.6:c.764_772del | ENSP00000435889.2:p.Met255_Gly258delinsArg | |
| ENST00000483127.2:c.782_790del | ENSP00000436469.2:p.Met261_Gly264delinsArg | |
| ENST00000485271.6:c.764_772del | ENSP00000431264.2:p.Met255_Gly258delinsArg | |
| ENST00000529892.6:c.806_814del | ENSP00000432528.2:p.Met269_Gly272delinsArg | |
| ENST00000533178.6:c.*93_*101del | ENSP00000436430.2:n.*93_*101del | |
| ENST00000672314.2:c.764_772del | ENSP00000500828.2:p.Met255_Gly258delinsArg | |
| ENST00000674679.2:c.*676_*684del | ENSP00000501623.2:n.*676_*684del | |
| ENST00000710952.2:c.848_856del MANE Plus Clinical | ENSP00000518552.2:p.Met283_Gly286delinsArg | |
| ENST00000672818.3:c.839_847del | ENSP00000500891.1:p.Met280_Gly283delinsArg | |
| ENST00000450313.6:c.*93_*101del | ENSP00000408176.2:n.*93_*101del | |
| ENST00000456914.7:c.764_772del MANE Select | ENSP00000407590.2:p.Met255_Gly258delinsArg | |
| ENST00000461495.6:c.*503_*511del | ENSP00000437166.1:n.*503_*511del | |
| ENST00000671898.1:c.1352_1360del | ENSP00000499896.1:p.Met451_Gly454delinsArg | |
| ENST00000672011.1:c.*93_*101del | ENSP00000500418.1:n.*93_*101del | |
| ENST00000672314.1:c.764_772del | ENSP00000500828.1:p.Met255_Gly258delinsArg | |
| ENST00000672593.1:c.*817_*825del | ENSP00000500455.1:n.*817_*825del | |
| ENST00000672764.1:c.*93_*101del | ENSP00000500886.1:n.*93_*101del | |
| ENST00000672818.2:c.839_847del | ENSP00000500891.1:p.Met280_Gly283delinsArg | |
| ENST00000673134.1:c.*461_*469del | ENSP00000500526.1:n.*461_*469del | |
| ENST00000674679.1:c.792_800del | ENSP00000501623.1:n.792_800del | |
| ENST00000354383.10:c.767_775del | ENSP00000346354.6:p.Met256_Gly259delinsArg | |
| ENST00000355498.6:c.764_772del | ENSP00000347685.2:p.Met255_Gly258delinsArg | |
| ENST00000372098.7:c.839_847del | ENSP00000361170.3:p.Met280_Gly283delinsArg | |
| ENST00000372104.5:c.764_772del | ENSP00000361176.1:p.Met255_Gly258delinsArg | |
| ENST00000372110.7:c.809_817del | ENSP00000361182.3:p.Met270_Gly273delinsArg | |
| ENST00000372115.7:c.806_814del | ENSP00000361187.3:p.Met269_Gly272delinsArg | |
| ENST00000412971.5:c.380_388del | ENSP00000410263.1:p.Met127_Gly130delinsArg | |
| ENST00000435155.1:c.797_805del | ENSP00000403655.1:p.Met266_Gly269delinsArg | |
| ENST00000448481.5:c.797_805del | ENSP00000409718.1:p.Met266_Gly269delinsArg | |
| ENST00000450313.5:c.848_856del | ENSP00000408176.1:p.Met283_Gly286delinsArg | |
| ENST00000456914.6:c.764_772del | ENSP00000407590.2:p.Met255_Gly258delinsArg | |
| ENST00000461495.5:c.*503_*511del | ENSP00000437166.1:n.*503_*511del | |
| ENST00000462388.5:n.455_463del | ||
| ENST00000466231.1:n.129_137del | ||
| ENST00000467459.5:c.158_166del | ENSP00000435889.1:p.Met53_Gly56delinsArg | |
| ENST00000467940.5:c.*687_*695del | ENSP00000436478.1:n.*687_*695del | |
| ENST00000470256.5:c.*93_*101del | ENSP00000434985.1:n.*93_*101del | |
| ENST00000475516.5:c.*577_*585del | ENSP00000433843.1:n.*577_*585del | |
| ENST00000478796.5:n.751_759del | ||
| ENST00000481571.5:c.*577_*585del | ENSP00000436597.1:n.*577_*585del | |
| ENST00000488731.6:c.187+512_187+520del | ENSP00000432330.1:n.187+512_187+520del | |
| ENST00000528013.6:c.806_814del | ENSP00000433130.2:p.Met269_Gly272delinsArg | |
| ENST00000529892.5:c.28_36del | ||
| ENST00000529984.5:c.187+512_187+520del | ENSP00000437093.1:n.187+512_187+520del | |
| ENST00000531105.5:c.115+2140_115+2148del | ENSP00000431292.1:n.115+2140_115+2148del | |
| ENST00000533178.5:c.393_401del | ENSP00000436430.1:n.393_401del | |
| NM_001048171.1:c.806_814del | NP_001041636.1:p.Met269_Gly272delinsArg | |
| NM_001048172.1:c.767_775del | NP_001041637.1:p.Met256_Gly259delinsArg | |
| NM_001048173.1:c.764_772del | NP_001041638.1:p.Met255_Gly258delinsArg | |
| NM_001048174.1:c.764_772del | NP_001041639.1:p.Met255_Gly258delinsArg | |
| NM_001128425.1:c.848_856del , LRG_220t1:c.848_856del | NP_001121897.1:p.Met283_Gly286delinsArg | |
| NM_001293190.1:c.809_817del | NP_001280119.1:p.Met270_Gly273delinsArg | |
| NM_001293191.1:c.797_805del | NP_001280120.1:p.Met266_Gly269delinsArg | |
| NM_001293192.1:c.488_496del | NP_001280121.1:p.Met163_Gly166delinsArg | |
| NM_001293195.1:c.764_772del | NP_001280124.1:p.Met255_Gly258delinsArg | |
| NM_001293196.1:c.488_496del | NP_001280125.1:p.Met163_Gly166delinsArg | |
| NM_012222.2:c.839_847del | NP_036354.1:p.Met280_Gly283delinsArg | |
| XM_011541497.1:c.824_832del | XP_011539799.1:p.Met275_Gly278delinsArg | |
| XM_011541498.1:c.806_814del | XP_011539800.1:p.Met269_Gly272delinsArg | |
| XM_011541499.1:c.806_814del | XP_011539801.1:p.Met269_Gly272delinsArg | |
| XM_011541500.1:c.806_814del | XP_011539802.1:p.Met269_Gly272delinsArg | |
| XM_011541501.1:c.806_814del | XP_011539803.1:p.Met269_Gly272delinsArg | |
| XM_011541502.1:c.806_814del | XP_011539804.1:p.Met269_Gly272delinsArg | |
| XM_011541503.1:c.806_814del | XP_011539805.1:p.Met269_Gly272delinsArg | |
| XM_011541504.1:c.797_805del | XP_011539806.1:p.Met266_Gly269delinsArg | |
| XM_011541505.1:c.386_394del | XP_011539807.1:p.Met129_Gly132delinsArg | |
| XM_011541506.1:c.386_394del | XP_011539808.1:p.Met129_Gly132delinsArg | |
| XM_011541507.1:c.377_385del | XP_011539809.1:p.Met126_Gly129delinsArg | |
| XM_011541508.1:c.392_400del | XP_011539810.1:p.Met131_Gly134delinsArg | |
| XR_946658.1:n.895_903del | ||
| NM_001350650.1:c.419_427del | NP_001337579.1:p.Met140_Gly143delinsArg | |
| NM_001350651.1:c.419_427del | NP_001337580.1:p.Met140_Gly143delinsArg | |
| NR_146882.1:n.1022_1030del | ||
| NR_146883.1:n.836_844del | ||
| XM_011541497.3:c.824_832del | XP_011539799.1:p.Met275_Gly278delinsArg | |
| XM_011541500.3:c.806_814del | XP_011539802.1:p.Met269_Gly272delinsArg | |
| XM_011541501.2:c.806_814del | XP_011539803.1:p.Met269_Gly272delinsArg | |
| XM_011541502.2:c.806_814del | XP_011539804.1:p.Met269_Gly272delinsArg | |
| XM_011541503.2:c.806_814del | XP_011539805.1:p.Met269_Gly272delinsArg | |
| XM_011541504.2:c.797_805del | XP_011539806.1:p.Met266_Gly269delinsArg | |
| XM_011541505.2:c.386_394del | XP_011539807.1:p.Met129_Gly132delinsArg | |
| XM_011541506.2:c.386_394del | XP_011539808.1:p.Met129_Gly132delinsArg | |
| XM_017001331.1:c.806_814del | XP_016856820.1:p.Met269_Gly272delinsArg | |
| XM_017001332.1:c.806_814del | XP_016856821.1:p.Met269_Gly272delinsArg | |
| XM_017001333.1:c.806_814del | XP_016856822.1:p.Met269_Gly272delinsArg | |
| XM_017001334.1:c.767_775del | XP_016856823.1:p.Met256_Gly259delinsArg | |
| XM_017001335.1:c.488_496del | XP_016856824.1:p.Met163_Gly166delinsArg | |
| XM_017001336.1:c.419_427del | XP_016856825.1:p.Met140_Gly143delinsArg | |
| XM_017001337.1:c.419_427del | XP_016856826.1:p.Met140_Gly143delinsArg | |
| XM_024447244.1:c.419_427del | XP_024303012.1:p.Met140_Gly143delinsArg | |
| XM_024447245.1:c.419_427del | XP_024303013.1:p.Met140_Gly143delinsArg | |
| XM_024447248.1:c.377_385del | XP_024303016.1:p.Met126_Gly129delinsArg | |
| XM_024447249.1:c.248_256del | XP_024303017.1:p.Met83_Gly86delinsArg | |
| XM_024447250.1:c.248_256del | XP_024303018.1:p.Met83_Gly86delinsArg | |
| XM_024447251.1:c.248_256del | XP_024303019.1:p.Met83_Gly86delinsArg | |
| XR_001737190.1:n.809_817del | ||
| XR_001737192.1:n.621_629del | ||
| XR_002956643.1:n.801_809del | ||
| XR_002956644.1:n.1336_1344del | ||
| XR_946658.2:n.909_917del | ||
| NM_001048171.2:c.764_772del | NP_001041636.2:p.Met255_Gly258delinsArg | |
| NM_001128425.2:c.848_856del MANE Plus Clinical | NP_001121897.1:p.Met283_Gly286delinsArg | |
| NM_001048172.2:c.767_775del | NP_001041637.1:p.Met256_Gly259delinsArg | |
| NM_001048173.2:c.764_772del | NP_001041638.1:p.Met255_Gly258delinsArg | |
| NM_001048174.2:c.764_772del MANE Select | NP_001041639.1:p.Met255_Gly258delinsArg | |
| NM_001293190.2:c.809_817del | NP_001280119.1:p.Met270_Gly273delinsArg | |
| NM_001293191.2:c.797_805del | NP_001280120.1:p.Met266_Gly269delinsArg | |
| NM_001293192.2:c.488_496del | NP_001280121.1:p.Met163_Gly166delinsArg | |
| NM_001293195.2:c.764_772del | NP_001280124.1:p.Met255_Gly258delinsArg | |
| NM_001293196.2:c.488_496del | NP_001280125.1:p.Met163_Gly166delinsArg | |
| NM_001350650.2:c.419_427del | NP_001337579.1:p.Met140_Gly143delinsArg | |
| NM_001350651.2:c.419_427del | NP_001337580.1:p.Met140_Gly143delinsArg | |
| NM_012222.3:c.839_847del | NP_036354.1:p.Met280_Gly283delinsArg | |
| NR_146882.2:n.992_1000del | ||
| NR_146883.2:n.841_849del |