HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14871422_14871429del , CM000667.2:g.14871422_14871429del | GRCh38 |
NC_000005.9:g.14871531_14871538del , CM000667.1:g.14871531_14871538del | GRCh37 |
NC_000005.8:g.14924531_14924538del | NCBI36 |
NG_008273.1:g.5352_5359del | |
NG_008273.2:g.5359_5366del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.21_28del MANE Select | ENSP00000284268.6:p.Thr8LeufsTer? | |
ENST00000284268.6:c.21_28del | ENSP00000284268.6:p.Thr8LeufsTer? | |
ENST00000505140.1:c.21_28del | ENSP00000426332.1:p.Thr8LeufsTer? | |
ENST00000513115.1:n.46_53del | ||
NM_054027.4:c.21_28del | NP_473368.1:p.Thr8LeufsTer? | |
XM_011514067.1:c.21_28del | XP_011512369.1:p.Thr8LeufsTer? | |
NM_054027.5:c.21_28del | NP_473368.1:p.Thr8LeufsTer? | |
NM_054027.6:c.21_28del MANE Select | NP_473368.1:p.Thr8LeufsTer? |