Linked Data
dbSNP Id:
rs2025039237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251349_2251351del , CM000681.2:g.2251349_2251351del | GRCh38 |
| NC_000019.9:g.2251348_2251350del , CM000681.1:g.2251348_2251350del | GRCh37 |
| NC_000019.8:g.2202348_2202350del | NCBI36 |
| NG_012190.1:g.7236_7238del | |
| NG_032853.1:g.10073_10075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1075_1077del MANE Select | ENSP00000221496.2:p.Asp359del | |
| ENST00000221496.4:c.1075_1077del | ENSP00000221496.2:p.Asp359del | |
| ENST00000589313.2:n.1428_1430del | ||
| NM_000479.3:c.1075_1077del | NP_000470.2:p.Asp359del | |
| NM_000479.4:c.1075_1077del | NP_000470.2:p.Asp359del | |
| NM_000479.5:c.1075_1077del MANE Select | NP_000470.3:p.Asp359del |