HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138946034_138946061del , CM000665.2:g.138946034_138946061del | GRCh38 |
NC_000003.11:g.138664876_138664903del , CM000665.1:g.138664876_138664903del | GRCh37 |
NC_000003.10:g.140147566_140147593del | NCBI36 |
NG_012454.1:g.6080_6107del | |
NG_029796.1:g.3801_3828del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000648323.1:c.662_689del MANE Select | ENSP00000497217.1:p.Ala221GlyfsTer? | |
ENST00000330315.3:c.662_689del | ENSP00000333188.3:p.Ala221GlyfsTer? | |
NM_023067.3:c.662_689del | NP_075555.1:p.Ala221GlyfsTer? | |
NM_023067.4:c.662_689del MANE Select | NP_075555.1:p.Ala221GlyfsTer? |