Linked Data
dbSNP Id:
rs1944077997
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891397_128891400del , CM000673.2:g.128891397_128891400del | GRCh38 |
| NC_000011.9:g.128761292_128761295del , CM000673.1:g.128761292_128761295del | GRCh37 |
| NC_000011.8:g.128266502_128266505del | NCBI36 |
| NG_023406.2:g.4980_4983del , LRG_333:g.4980_4983del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-335_-332del MANE Select | ENSP00000433295.1:n.-335_-332del | |
| ENST00000529694.5:c.-335_-332del | ENSP00000433295.1:n.-335_-332del | |
| NM_000890.4:c.-335_-332del | NP_000881.3:n.-335_-332del | |
| NM_001354169.1:c.-424_-421del | NP_001341098.1:n.-424_-421del | |
| NM_000890.5:c.-335_-332del MANE Select | NP_000881.3:n.-335_-332del | |
| NM_001354169.2:c.-424_-421del | NP_001341098.1:n.-424_-421del |