Linked Data
dbSNP Id:
rs2102075299
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251479_193251484del , CM000663.2:g.193251479_193251484del | GRCh38 |
| NC_000001.10:g.193220609_193220614del , CM000663.1:g.193220609_193220614del | GRCh37 |
| NC_000001.9:g.191487232_191487237del | NCBI36 |
| NG_012691.1:g.134522_134527del , LRG_507:g.134522_134527del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*767_*772del MANE Select | ENSP00000356405.4:n.*767_*772del | |
| ENST00000635846.1:c.*767_*772del | ENSP00000490035.1:n.*767_*772del | |
| ENST00000643006.1:c.*1273_*1278del | ENSP00000496633.1:n.*1273_*1278del | |
| ENST00000367435.3:c.*767_*772del | ENSP00000356405.3:n.*767_*772del | |
| NM_024529.4:c.*767_*772del , LRG_507t1:c.*767_*772del | NP_078805.3:n.*767_*772del | |
| NM_024529.5:c.*767_*772del MANE Select | NP_078805.3:n.*767_*772del |