Linked Data
dbSNP Id:
rs1759704578
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132868746_132868751del , CM000667.2:g.132868746_132868751del | GRCh38 |
| NC_000005.9:g.132204438_132204443del , CM000667.1:g.132204438_132204443del | GRCh37 |
| NC_000005.8:g.132232337_132232342del | NCBI36 |
| NG_012221.1:g.7120_7125del | |
| NG_047051.1:g.3141_3146del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378670.8:c.*1164_*1169del MANE Select | ENSP00000367939.3:n.*1164_*1169del | |
| NM_014402.4:c.*1164_*1169del | NP_055217.2:n.*1164_*1169del | |
| NM_014402.5:c.*1164_*1169del MANE Select | NP_055217.2:n.*1164_*1169del |