Linked Data
dbSNP Id:
rs1907414143
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583595_41583602del , CM000679.2:g.41583595_41583602del | GRCh38 |
| NC_000017.10:g.39739847_39739854del , CM000679.1:g.39739847_39739854del | GRCh37 |
| NC_000017.9:g.36993373_36993380del | NCBI36 |
| NG_008624.1:g.8296_8303del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1004_1011del MANE Select | ENSP00000167586.6:p.Arg335HisfsTer7 | |
| ENST00000167586.6:c.1004_1011del | ENSP00000167586.6:p.Arg335HisfsTer7 | |
| ENST00000476662.1:n.454_461del | ||
| NM_000526.4:c.1004_1011del | NP_000517.2:p.Arg335HisfsTer7 | |
| NM_000526.5:c.1004_1011del MANE Select | NP_000517.3:p.Arg335HisfsTer7 |