Linked Data
dbSNP Id:
rs2073451240
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228156del , CM000679.2:g.66228156del | GRCh38 |
| NC_000017.10:g.64224274del , CM000679.1:g.64224274del | GRCh37 |
| NC_000017.9:g.61654736del | NCBI36 |
| NG_012045.1:g.6285del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000205948.11:c.107del MANE Select | ENSP00000205948.6:p.Pro36ArgfsTer2 | |
| ENST00000205948.10:c.107del | ENSP00000205948.6:p.Pro36ArgfsTer2 | |
| ENST00000577982.1:c.107del | ENSP00000464301.1:p.Pro36ArgfsTer2 | |
| ENST00000581797.5:c.-74del | ENSP00000463553.1:n.-74del | |
| NM_000042.2:c.107del | NP_000033.2:p.Pro36ArgfsTer2 | |
| NM_000042.3:c.107del MANE Select | NP_000033.2:p.Pro36ArgfsTer2 |