HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88733987_88733989dup , CM000678.2:g.88733987_88733989dup | GRCh38 |
NC_000016.9:g.88800395_88800397dup , CM000678.1:g.88800395_88800397dup | GRCh37 |
NC_000016.8:g.87327896_87327898dup | NCBI36 |
NG_042229.1:g.56254_56256dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.2268_2270dup (PIEZO1) MANE Select | ENSP00000301015.9:p.Glu756_Asp757insGlu | |
ENST00000301015.13:c.2268_2270dup (PIEZO1) | ENSP00000301015.9:p.Glu756_Asp757insGlu | |
NM_001142864.2:c.2268_2270dup (PIEZO1) | NP_001136336.2:p.Glu756_Asp757insGlu | |
NM_001142864.3:c.2268_2270dup (PIEZO1) | NP_001136336.2:p.Glu756_Asp757insGlu | |
NR_103774.1:n.269+2539_269+2541dup (HSALR1) | ||
NM_001142864.4:c.2268_2270dup (PIEZO1) MANE Select | NP_001136336.2:p.Glu756_Asp757insGlu |