Linked Data
dbSNP Id:
rs2137772139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044744_5044745del , CM000674.2:g.5044744_5044745del | GRCh38 |
| NC_000012.11:g.5153910_5153911del , CM000674.1:g.5153910_5153911del | GRCh37 |
| NC_000012.10:g.5024171_5024172del | NCBI36 |
| NG_012198.1:g.5826_5827del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.597_598del MANE Select | ENSP00000252321.3:p.Glu199AspfsTer18 | |
| ENST00000252321.4:c.597_598del | ENSP00000252321.3:p.Glu199AspfsTer18 | |
| NM_002234.3:c.597_598del | NP_002225.2:p.Glu199AspfsTer18 | |
| NM_002234.4:c.597_598del MANE Select | NP_002225.2:p.Glu199AspfsTer18 |