Linked Data
dbSNP Id:
rs2073450677
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228100_66228103del , CM000679.2:g.66228100_66228103del | GRCh38 |
| NC_000017.10:g.64224218_64224221del , CM000679.1:g.64224218_64224221del | GRCh37 |
| NC_000017.9:g.61654680_61654683del | NCBI36 |
| NG_012045.1:g.6337_6340del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.159_162del MANE Select | ENSP00000205948.6:p.Gly54MetfsTer7 | |
| ENST00000205948.10:c.159_162del | ENSP00000205948.6:p.Gly54MetfsTer7 | |
| ENST00000577982.1:c.159_162del | ENSP00000464301.1:p.Gly54MetfsTer7 | |
| ENST00000581797.5:c.-22_-19del | ENSP00000463553.1:n.-22_-19del | |
| NM_000042.2:c.159_162del | NP_000033.2:p.Gly54MetfsTer7 | |
| NM_000042.3:c.159_162del MANE Select | NP_000033.2:p.Gly54MetfsTer7 |