Linked Data
dbSNP Id:
rs2137774274
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5046040_5046041del , CM000674.2:g.5046040_5046041del | GRCh38 |
| NC_000012.11:g.5155206_5155207del , CM000674.1:g.5155206_5155207del | GRCh37 |
| NC_000012.10:g.5025467_5025468del | NCBI36 |
| NG_012198.1:g.7122_7123del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.*51_*52del MANE Select | ENSP00000252321.3:n.*51_*52del | |
| ENST00000252321.4:c.*51_*52del | ENSP00000252321.3:n.*51_*52del | |
| NM_002234.3:c.*51_*52del | NP_002225.2:n.*51_*52del | |
| NM_002234.4:c.*51_*52del MANE Select | NP_002225.2:n.*51_*52del |