Linked Data
dbSNP Id:
rs2022712846
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533844del , CM000681.2:g.7533844del | GRCh38 |
| NC_000019.9:g.7598730del , CM000681.1:g.7598730del | GRCh37 |
| NC_000019.8:g.7504730del | NCBI36 |
| NG_013374.1:g.4693del | |
| NG_015806.1:g.16235del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*49del MANE Select | ENSP00000264079.5:n.*49del | |
| ENST00000264079.10:c.*49del | ENSP00000264079.5:n.*49del | |
| ENST00000394321.9:n.2107del | ||
| ENST00000599334.1:c.520del | ||
| ENST00000601870.1:c.145del | ||
| ENST00000602227.1:n.346del | ||
| NM_020533.2:c.*49del | NP_065394.1:n.*49del | |
| NM_020533.3:c.*49del MANE Select | NP_065394.1:n.*49del |