Linked Data
dbSNP Id:
rs2126581994
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194501del , CM000666.2:g.186194501del | GRCh38 |
| NC_000004.11:g.187115655del , CM000666.1:g.187115655del | GRCh37 |
| NC_000004.10:g.187352649del | NCBI36 |
| NG_007965.1:g.7982del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.216del MANE Select | ENSP00000368079.4:p.Glu72AspfsTer19 | |
| ENST00000378802.4:c.216del | ENSP00000368079.4:p.Glu72AspfsTer19 | |
| NM_207352.3:c.216del | NP_997235.3:p.Glu72AspfsTer19 | |
| XM_005262935.2:c.216del | XP_005262992.1:p.Glu72AspfsTer19 | |
| XM_005262935.4:c.216del | XP_005262992.1:p.Glu72AspfsTer19 | |
| XM_017008037.1:c.-95del | XP_016863526.1:n.-95del | |
| NM_207352.4:c.216del MANE Select | NP_997235.3:p.Glu72AspfsTer19 |