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
COSMIC:
COSN25450117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240542718_240542732del , CM000663.2:g.240542718_240542732del | GRCh38 |
| NC_000001.10:g.240706018_240706032del , CM000663.1:g.240706018_240706032del | GRCh37 |
| NC_000001.9:g.238772641_238772655del | NCBI36 |
| NG_053136.1:g.74642_74656del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318160.5:c.-1-49255_-1-49241del MANE Select | ENSP00000318650.4:n.-1-49255_-1-49241del | |
| ENST00000318160.4:c.-1-49255_-1-49241del | ENSP00000318650.4:n.-1-49255_-1-49241del | |
| NM_022469.3:c.-1-49255_-1-49241del | NP_071914.3:n.-1-49255_-1-49241del | |
| XM_011544249.1:c.-121-45134_-121-45120del | XP_011542551.1:n.-121-45134_-121-45120del... | |
| XM_011544249.2:c.-121-45134_-121-45120del | XP_011542551.1:n.-121-45134_-121-45120del... | |
| NM_022469.4:c.-1-49255_-1-49241del MANE Select | NP_071914.3:n.-1-49255_-1-49241del |