Linked Data
dbSNP Id:
rs1979540352
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370646_34370648del , CM000683.2:g.34370646_34370648del | GRCh38 |
| NC_000021.8:g.35742945_35742947del , CM000683.1:g.35742945_35742947del | GRCh37 |
| NC_000021.7:g.34664815_34664817del | NCBI36 |
| NG_008804.1:g.11623_11625del , LRG_291:g.11623_11625del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290310.4:c.168_170del MANE Select | ENSP00000290310.2:p.Met56del | |
| ENST00000290310.3:c.168_170del | ENSP00000290310.2:p.Met56del | |
| NM_172201.1:c.168_170del , LRG_291t1:c.168_170del | NP_751951.1:p.Met56del | |
| XR_937683.1:n.677_679del | ||
| XR_937684.1:n.677_679del | ||
| XR_001755012.2:n.798_800del | ||
| XR_001755013.2:n.677_679del | ||
| XR_937683.2:n.677_679del | ||
| NM_172201.2:c.168_170del MANE Select | NP_751951.1:p.Met56del |