HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945776_138945783del , CM000665.2:g.138945776_138945783del | GRCh38 |
NC_000003.11:g.138664618_138664625del , CM000665.1:g.138664618_138664625del | GRCh37 |
NC_000003.10:g.140147308_140147315del | NCBI36 |
NG_012454.1:g.6366_6373del | |
NG_029796.1:g.3543_3550del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.948_955del MANE Select | ENSP00000497217.1:p.Pro317GlyfsTer? | |
ENST00000330315.3:c.948_955del | ENSP00000333188.3:p.Pro317GlyfsTer? | |
NM_023067.3:c.948_955del | NP_075555.1:p.Pro317GlyfsTer? | |
NM_023067.4:c.948_955del MANE Select | NP_075555.1:p.Pro317GlyfsTer? |