HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14871374_14871375del , CM000667.2:g.14871374_14871375del | GRCh38 |
NC_000005.9:g.14871483_14871484del , CM000667.1:g.14871483_14871484del | GRCh37 |
NC_000005.8:g.14924483_14924484del | NCBI36 |
NG_008273.1:g.5405_5406del | |
NG_008273.2:g.5412_5413del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.74_75del MANE Select | ENSP00000284268.6:p.Ile25SerfsTer? | |
ENST00000284268.6:c.74_75del | ENSP00000284268.6:p.Ile25SerfsTer? | |
ENST00000505140.1:c.74_75del | ENSP00000426332.1:p.Ile25SerfsTer? | |
ENST00000513115.1:n.99_100del | ||
NM_054027.4:c.74_75del | NP_473368.1:p.Ile25SerfsTer? | |
XM_011514067.1:c.74_75del | XP_011512369.1:p.Ile25SerfsTer? | |
NM_054027.5:c.74_75del | NP_473368.1:p.Ile25SerfsTer? | |
NM_054027.6:c.74_75del MANE Select | NP_473368.1:p.Ile25SerfsTer? |