Linked Data
dbSNP Id:
rs1753985704
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159316142_159316144del , CM000667.2:g.159316142_159316144del | GRCh38 |
| NC_000005.9:g.158743150_158743152del , CM000667.1:g.158743150_158743152del | GRCh37 |
| NC_000005.8:g.158675728_158675730del | NCBI36 |
| NG_009618.1:g.19331_19333del , LRG_71:g.19331_19333del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.*1-43_*1-41del | ENSP00000512849.1:n.*1-43_*1-41del | |
| ENST00000696751.1:c.*483-43_*483-41del | ENSP00000512850.1:n.*483-43_*483-41del | |
| ENST00000231228.3:c.*1-43_*1-41del MANE Select | ENSP00000231228.2:n.*1-43_*1-41del | |
| ENST00000231228.2:c.*1-43_*1-41del | ENSP00000231228.2:n.*1-43_*1-41del | |
| NM_002187.2:c.*1-43_*1-41del , LRG_71t1:c.*1-43_*1-41del | NP_002178.2:n.*1-43_*1-41del | |
| NM_002187.3:c.*1-43_*1-41del MANE Select | NP_002178.2:n.*1-43_*1-41del |