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_000015.10:g.80120898_80120899insCCACCG , CM000677.2:g.80120898_80120899insCCACCG | GRCh38 |
| NC_000015.9:g.80413240_80413241insCCACCG , CM000677.1:g.80413240_80413241insCCACCG | GRCh37 |
| NC_000015.8:g.78200295_78200296insCCACCG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261749.11:c.154+400_154+401insCCACCG MANE Select | ENSP00000261749.6:n.154+400_154+401insCCACCG | |
| ENST00000261749.10:c.154+400_154+401insCCACCG | ENSP00000261749.6:n.154+400_154+401insCCACCG | |
| ENST00000558087.5:c.154+400_154+401insCCACCG | ENSP00000453888.1:n.154+400_154+401insCCACCG | |
| ENST00000558272.5:c.154+400_154+401insCCACCG | ENSP00000456973.1:n.154+400_154+401insCCACCG | |
| ENST00000558390.5:c.202+400_202+401insCCACCG | ENSP00000453308.1:n.202+400_202+401insCCACCG | |
| ENST00000558494.5:c.154+400_154+401insCCACCG | ENSP00000454137.1:n.154+400_154+401insCCACCG | |
| ENST00000558688.5:c.154+400_154+401insCCACCG | ENSP00000452664.1:n.154+400_154+401insCCACCG | |
| ENST00000558724.1:c.199+400_199+401insCCACCG | ENSP00000452625.1:n.199+400_199+401insCCACCG | |
| ENST00000558997.5:c.154+400_154+401insCCACCG | ENSP00000453571.1:n.154+400_154+401insCCACCG | |
| ENST00000559157.5:c.154+400_154+401insCCACCG | ENSP00000454152.1:n.154+400_154+401insCCACCG | |
| ENST00000559775.5:c.154+400_154+401insCCACCG | ENSP00000453709.1:n.154+400_154+401insCCACCG | |
| ENST00000559835.5:c.154+400_154+401insCCACCG | ENSP00000453291.1:n.154+400_154+401insCCACCG | |
| ENST00000560392.5:c.154+400_154+401insCCACCG | ENSP00000455146.1:n.154+400_154+401insCCACCG | |
| ENST00000560976.5:c.202+400_202+401insCCACCG | ENSP00000453710.1:n.202+400_202+401insCCACCG | |
| ENST00000561060.5:c.154+400_154+401insCCACCG | ENSP00000452735.1:n.154+400_154+401insCCACCG | |
| ENST00000564367.5:c.154+400_154+401insCCACCG | ENSP00000454273.1:n.154+400_154+401insCCACCG | |
| ENST00000613266.4:c.154+400_154+401insCCACCG | ENSP00000479071.1:n.154+400_154+401insCCACCG | |
| ENST00000616533.4:c.154+400_154+401insCCACCG | ENSP00000478129.1:n.154+400_154+401insCCACCG | |
| ENST00000618205.4:c.154+400_154+401insCCACCG | ENSP00000484971.1:n.154+400_154+401insCCACCG | |
| NM_001242911.1:c.154+400_154+401insCCACCG | NP_001229840.1:n.154+400_154+401insCCACCG | |
| NM_001242912.1:c.154+400_154+401insCCACCG | NP_001229841.1:n.154+400_154+401insCCACCG | |
| NM_001242913.1:c.154+400_154+401insCCACCG | NP_001229842.1:n.154+400_154+401insCCACCG | |
| NM_001242914.1:c.154+400_154+401insCCACCG | NP_001229843.1:n.154+400_154+401insCCACCG | |
| NM_001242915.1:c.154+400_154+401insCCACCG | NP_001229844.1:n.154+400_154+401insCCACCG | |
| NM_001242916.1:c.154+400_154+401insCCACCG | NP_001229845.1:n.154+400_154+401insCCACCG | |
| NM_001242917.1:c.154+400_154+401insCCACCG | NP_001229846.1:n.154+400_154+401insCCACCG | |
| NM_001242918.1:c.154+400_154+401insCCACCG | NP_001229847.1:n.154+400_154+401insCCACCG | |
| NM_001242919.1:c.154+400_154+401insCCACCG | NP_001229848.1:n.154+400_154+401insCCACCG | |
| NM_019006.3:c.154+400_154+401insCCACCG | NP_061879.2:n.154+400_154+401insCCACCG | |
| XM_011521683.1:c.196+400_196+401insCCACCG | XP_011519985.1:n.196+400_196+401insCCACCG | |
| XM_011521684.1:c.154+400_154+401insCCACCG | XP_011519986.1:n.154+400_154+401insCCACCG | |
| XM_011521684.2:c.154+400_154+401insCCACCG | XP_011519986.1:n.154+400_154+401insCCACCG | |
| XM_024449955.1:c.154+400_154+401insCCACCG | XP_024305723.1:n.154+400_154+401insCCACCG | |
| XM_024449956.1:c.154+400_154+401insCCACCG | XP_024305724.1:n.154+400_154+401insCCACCG | |
| XM_024449957.1:c.154+400_154+401insCCACCG | XP_024305725.1:n.154+400_154+401insCCACCG | |
| XM_024449958.1:c.154+400_154+401insCCACCG | XP_024305726.1:n.154+400_154+401insCCACCG | |
| XM_024449959.1:c.154+400_154+401insCCACCG | XP_024305727.1:n.154+400_154+401insCCACCG | |
| XM_024449960.1:c.154+400_154+401insCCACCG | XP_024305728.1:n.154+400_154+401insCCACCG | |
| XM_024449961.1:c.154+400_154+401insCCACCG | XP_024305729.1:n.154+400_154+401insCCACCG | |
| XM_024449962.1:c.154+400_154+401insCCACCG | XP_024305730.1:n.154+400_154+401insCCACCG | |
| XM_024449963.1:c.154+400_154+401insCCACCG | XP_024305731.1:n.154+400_154+401insCCACCG | |
| NM_019006.4:c.154+400_154+401insCCACCG MANE Select | NP_061879.2:n.154+400_154+401insCCACCG | |
| NM_001242911.2:c.154+400_154+401insCCACCG | NP_001229840.1:n.154+400_154+401insCCACCG | |
| NM_001242912.2:c.154+400_154+401insCCACCG | NP_001229841.1:n.154+400_154+401insCCACCG | |
| NM_001242913.2:c.154+400_154+401insCCACCG | NP_001229842.1:n.154+400_154+401insCCACCG | |
| NM_001242914.2:c.154+400_154+401insCCACCG | NP_001229843.1:n.154+400_154+401insCCACCG | |
| NM_001242915.2:c.154+400_154+401insCCACCG | NP_001229844.1:n.154+400_154+401insCCACCG | |
| NM_001242916.2:c.154+400_154+401insCCACCG | NP_001229845.1:n.154+400_154+401insCCACCG | |
| NM_001242917.2:c.154+400_154+401insCCACCG | NP_001229846.1:n.154+400_154+401insCCACCG | |
| NM_001242918.2:c.154+400_154+401insCCACCG | NP_001229847.1:n.154+400_154+401insCCACCG |