Linked Data
dbSNP Id:
rs1562699734
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095567_27095573del , CM000669.2:g.27095567_27095573del | GRCh38 |
| NC_000007.13:g.27135186_27135192del , CM000669.1:g.27135186_27135192del | GRCh37 |
| NC_000007.12:g.27101711_27101717del | NCBI36 |
| NG_011813.1:g.5436_5442del | |
| NG_033087.1:g.4474_4480del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.342_348del MANE Select | ENSP00000494260.2:p.Asn114LysfsTer4 | |
| ENST00000343060.4:c.342_348del | ENSP00000343246.4:p.Asn114LysfsTer4 | |
| ENST00000355633.5:c.342_348del | ENSP00000347851.5:p.Asn114LysfsTer? | |
| NM_005522.4:c.342_348del | NP_005513.1:p.Asn114LysfsTer4 | |
| NM_153620.2:c.342_348del | NP_705873.2:p.Asn114LysfsTer? | |
| NM_005522.5:c.342_348del MANE Select | NP_005513.2:p.Asn114LysfsTer4 | |
| NM_153620.3:c.342_348del | NP_705873.3:p.Asn114LysfsTer? |