HGVS | Genome Assembly |
---|---|
NC_000006.12:g.24302119_24302120del , CM000668.2:g.24302119_24302120del | GRCh38 |
NC_000006.11:g.24302347_24302348del , CM000668.1:g.24302347_24302348del | GRCh37 |
NC_000006.10:g.24410326_24410327del | NCBI36 |
NG_012829.1:g.60934_60935del | |
NG_012829.2:g.86174_86175del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378454.8:c.349-75_349-74del MANE Select | ENSP00000367715.3:n.349-75_349-74del | |
ENST00000378454.7:c.349-75_349-74del | ENSP00000367715.3:n.349-75_349-74del | |
NM_001195610.1:c.349-75_349-74del | NP_001182539.1:n.349-75_349-74del | |
NM_016356.4:c.349-75_349-74del | NP_057440.2:n.349-75_349-74del | |
NM_016356.5:c.349-75_349-74del MANE Select | NP_057440.2:n.349-75_349-74del | |
NM_001195610.2:c.349-75_349-74del | NP_001182539.1:n.349-75_349-74del |