Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88733987_88733993delinsCCTGCTG , CM000678.2:g.88733987_88733993delinsCCTGCTG | GRCh38 |
| NC_000016.9:g.88800395_88800401delinsCCTGCTG , CM000678.1:g.88800395_88800401delinsCCTGCTG | GRCh37 |
| NC_000016.8:g.87327896_87327902delinsCCTGCTG | NCBI36 |
| NG_042229.1:g.56228_56234delinsCAGCAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.2242_2248delinsCAGCAGG (PIEZO1) MANE Select | ENSP00000301015.9:p.Gln748= | |
| ENST00000301015.13:c.2242_2248delinsCAGCAGG (PIEZO1) | ENSP00000301015.9:p.Gln748= | |
| NM_001142864.2:c.2242_2248delinsCAGCAGG (PIEZO1) | NP_001136336.2:p.Gln748= | |
| NM_001142864.3:c.2242_2248delinsCAGCAGG (PIEZO1) | NP_001136336.2:p.Gln748= | |
| NR_103774.1:n.269+2539_269+2545delinsCCTGCTG (HSALR1) | ||
| NM_001142864.4:c.2242_2248delinsCAGCAGG (PIEZO1) MANE Select | NP_001136336.2:p.Gln748= |