Linked Data
dbSNP Id:
rs1263902035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21010730_21010740del , CM000664.2:g.21010730_21010740del | GRCh38 |
| NC_000002.11:g.21233602_21233612del , CM000664.1:g.21233602_21233612del | GRCh37 |
| NC_000002.10:g.21087107_21087117del | NCBI36 |
| NG_011793.1:g.38338_38348del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.6132_6142del MANE Select | ENSP00000233242.1:p.Asp2044GlufsTer14 | |
| ENST00000616098.4:c.6132_6142del | ENSP00000477990.1:p.Asp2044GlufsTer14 | |
| NM_000384.2:c.6132_6142del | NP_000375.2:p.Asp2044GlufsTer14 | |
| XM_011532809.1:c.5866_5869+7del | ||
| NM_000384.3:c.6132_6142del MANE Select | NP_000375.3:p.Asp2044GlufsTer14 |