Linked Data
dbSNP Id:
rs1475068093
gnomAD v2:
18-13884752-ACATGTAG-A
gnomAD v4:
18-13884753-ACATGTAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13884756_13884762del , CM000680.2:g.13884756_13884762del | GRCh38 |
| NC_000018.9:g.13884755_13884761del , CM000680.1:g.13884755_13884761del | GRCh37 |
| NC_000018.8:g.13874755_13874761del | NCBI36 |
| NG_011819.1:g.35777_35783del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327606.4:c.759_765del MANE Select | ENSP00000333821.2:p.Tyr254LeufsTer5 | |
| ENST00000327606.3:c.759_765del | ENSP00000333821.2:p.Tyr254LeufsTer5 | |
| NM_000529.2:c.759_765del MANE Select | NP_000520.1:p.Tyr254LeufsTer5 | |
| NM_001291911.1:c.759_765del | NP_001278840.1:p.Tyr254LeufsTer5 | |
| XM_017025781.1:c.759_765del | XP_016881270.1:p.Tyr254LeufsTer5 |