Linked Data
gnomAD v4:
19-2251420-ACTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251422_2251424del , CM000681.2:g.2251422_2251424del | GRCh38 |
| NC_000019.9:g.2251421_2251423del , CM000681.1:g.2251421_2251423del | GRCh37 |
| NC_000019.8:g.2202421_2202423del | NCBI36 |
| NG_012190.1:g.7309_7311del | |
| NG_032853.1:g.10001_10003del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1148_1150del MANE Select | ENSP00000221496.2:p.Leu383del | |
| ENST00000221496.4:c.1148_1150del | ENSP00000221496.2:p.Leu383del | |
| ENST00000589313.2:n.1501_1503del | ||
| NM_000479.3:c.1148_1150del | NP_000470.2:p.Leu383del | |
| NM_000479.4:c.1148_1150del | NP_000470.2:p.Leu383del | |
| NM_000479.5:c.1148_1150del MANE Select | NP_000470.3:p.Leu383del |