Linked Data
dbSNP Id:
rs2025040947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251417_2251450del , CM000681.2:g.2251417_2251450del | GRCh38 |
| NC_000019.9:g.2251416_2251449del , CM000681.1:g.2251416_2251449del | GRCh37 |
| NC_000019.8:g.2202416_2202449del | NCBI36 |
| NG_012190.1:g.7304_7337del | |
| NG_032853.1:g.9976_10009del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1143_1176del MANE Select | ENSP00000221496.2:p.Glu382SerfsTer? | |
| ENST00000221496.4:c.1143_1176del | ENSP00000221496.2:p.Glu382SerfsTer? | |
| ENST00000589313.2:n.1496_1529del | ||
| NM_000479.3:c.1143_1176del | NP_000470.2:p.Glu382SerfsTer? | |
| NM_000479.4:c.1143_1176del | NP_000470.2:p.Glu382SerfsTer? | |
| NM_000479.5:c.1143_1176del MANE Select | NP_000470.3:p.Glu382SerfsTer? |