Linked Data
dbSNP Id:
rs755038499
ExAC:
16:88800397 TG / T
gnomAD v3:
16-88733989-TG-T
gnomAD v4:
16-88733989-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88733990del , CM000678.2:g.88733990del | GRCh38 |
| NC_000016.9:g.88800398del , CM000678.1:g.88800398del | GRCh37 |
| NC_000016.8:g.87327899del | NCBI36 |
| NG_042229.1:g.56231del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.2245del (PIEZO1) MANE Select | ENSP00000301015.9:p.Gln749ArgfsTer? | |
| ENST00000301015.13:c.2245del (PIEZO1) | ENSP00000301015.9:p.Gln749ArgfsTer? | |
| NM_001142864.2:c.2245del (PIEZO1) | NP_001136336.2:p.Gln749ArgfsTer? | |
| NM_001142864.3:c.2245del (PIEZO1) | NP_001136336.2:p.Gln749ArgfsTer? | |
| NR_103774.1:n.269+2542del (HSALR1) | ||
| NM_001142864.4:c.2245del (PIEZO1) MANE Select | NP_001136336.2:p.Gln749ArgfsTer? |