Linked Data
dbSNP Id:
rs2100739383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782580_58782582del , CM000663.2:g.58782580_58782582del | GRCh38 |
| NC_000001.10:g.59248252_59248254del , CM000663.1:g.59248252_59248254del | GRCh37 |
| NC_000001.9:g.59020840_59020842del | NCBI36 |
| NG_047027.1:g.6532_6534del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.555_557del | ENSP00000518166.1:p.His186del | |
| ENST00000371222.4:c.489_491del MANE Select | ENSP00000360266.2:p.His164del | |
| ENST00000678696.1:c.489_491del | ENSP00000503132.1:p.His164del | |
| ENST00000371222.3:c.489_491del | ENSP00000360266.2:p.His164del | |
| NM_002228.3:c.489_491del | NP_002219.1:p.His164del | |
| NM_002228.4:c.489_491del MANE Select | NP_002219.1:p.His164del |