HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88732508_88732511delinsCCAG , CM000678.2:g.88732508_88732511delinsCCAG | GRCh38 |
NC_000016.9:g.88798916_88798919delinsCCAG , CM000678.1:g.88798916_88798919delinsCCAG | GRCh37 |
NC_000016.8:g.87326417_87326420delinsCCAG | NCBI36 |
NG_042229.1:g.57710_57713delinsCTGG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301015.14:c.2815_2818delinsCTGG (PIEZO1) MANE Select | ENSP00000301015.9:p.Leu939= | |
ENST00000301015.13:c.2815_2818delinsCTGG (PIEZO1) | ENSP00000301015.9:p.Leu939= | |
ENST00000490756.1:n.399_402delinsCTGG (PIEZO1) | ||
NM_001142864.2:c.2815_2818delinsCTGG (PIEZO1) | NP_001136336.2:p.Leu939= | |
NM_001142864.3:c.2815_2818delinsCTGG (PIEZO1) | NP_001136336.2:p.Leu939= | |
NR_103774.1:n.269+1060_269+1063delinsCCAG (HSALR1) | ||
NM_001142864.4:c.2815_2818delinsCTGG (PIEZO1) MANE Select | NP_001136336.2:p.Leu939= |