Linked Data
dbSNP Id:
rs2106310582
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060296_219060297del , CM000664.2:g.219060296_219060297del | GRCh38 |
| NC_000002.11:g.219925018_219925019del , CM000664.1:g.219925018_219925019del | GRCh37 |
| NC_000002.10:g.219633262_219633263del | NCBI36 |
| NG_016741.1:g.5220_5221del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.171_172del MANE Select | ENSP00000295731.5:p.Lys59AspfsTer9 | |
| ENST00000295731.6:c.171_172del | ENSP00000295731.5:p.Lys59AspfsTer9 | |
| NM_002181.3:c.171_172del | NP_002172.2:p.Lys59AspfsTer9 | |
| NM_002181.4:c.171_172del MANE Select | NP_002172.2:p.Lys59AspfsTer9 |