HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128945723_128945726delinsAAGG , CM000671.2:g.128945723_128945726delinsAAGG | GRCh38 |
NC_000009.11:g.131708002_131708005delinsAAGG , CM000671.1:g.131708002_131708005delinsAAGG | GRCh37 |
NC_000009.10:g.130747823_130747826delinsAAGG | NCBI36 |
NG_017009.1:g.7008_7011delinsCCTT , LRG_744:g.7008_7011delinsCCTT | |
NG_033111.1:g.3031_3034delinsAAGG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372586.4:c.1578_1581delinsCCTT MANE Select | ENSP00000361667.3:p.Leu526= | |
ENST00000372586.3:c.1578_1581delinsCCTT | ENSP00000361667.3:p.Leu526= | |
ENST00000482796.1:c.39-3466_39-3463delinsAAGG | ENSP00000417556.2:n.39-3466_39-3463delinsAAGG | |
NM_014908.3:c.1578_1581delinsCCTT , LRG_744t1:c.1578_1581delinsCCTT | NP_055723.1:p.Leu526= | |
NM_014908.4:c.1578_1581delinsCCTT MANE Select | NP_055723.1:p.Leu526= |