HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18400797_18400799del , CM000670.2:g.18400797_18400799del | GRCh38 |
NC_000008.10:g.18258307_18258309del , CM000670.1:g.18258307_18258309del | GRCh37 |
NC_000008.9:g.18302587_18302589del | NCBI36 |
NG_012246.1:g.14553_14555del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000286479.4:c.794_796del MANE Select | ENSP00000286479.3:p.Glu265del | |
ENST00000286479.3:c.794_796del | ENSP00000286479.3:p.Glu265del | |
ENST00000520116.1:c.404_406del | ENSP00000428416.1:p.Glu135del | |
NM_000015.2:c.794_796del | NP_000006.2:p.Glu265del | |
XM_011544358.1:c.794_796del | XP_011542660.1:p.Glu265del | |
XM_017012938.1:c.794_796del | XP_016868427.1:p.Glu265del | |
NM_000015.3:c.794_796del MANE Select | NP_000006.2:p.Glu265del |