Linked Data
dbSNP Id:
rs2146006539
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9214344_9214361del , CM000681.2:g.9214344_9214361del | GRCh38 |
| NC_000019.9:g.9325020_9325037del , CM000681.1:g.9325020_9325037del | GRCh37 |
| NC_000019.8:g.9186020_9186037del | NCBI36 |
| NG_027953.1:g.5511_5528del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641244.1:c.477_494del | ENSP00000493404.1:p.His159_Arg165delinsGln | |
| ENST00000641669.1:c.477_494del MANE Select | ENSP00000493383.1:p.His159_Arg165delinsGln | |
| ENST00000308682.3:c.477_494del | ENSP00000310488.2:p.His159_Arg165delinsGln | |
| NM_001005191.2:c.477_494del | NP_001005191.1:p.His159_Arg165delinsGln | |
| NM_001005191.3:c.477_494del MANE Select | NP_001005191.1:p.His159_Arg165delinsGln |