HGVS | Genome Assembly |
---|---|
NC_000016.10:g.176785del , CM000678.2:g.176785del | GRCh38 |
NC_000016.9:g.226784del , CM000678.1:g.226784del | GRCh37 |
NC_000016.8:g.166784del | NCBI36 |
NG_000006.1:g.37648del | |
NG_059186.1:g.5135del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000320868.9:c.69del MANE Select | ENSP00000322421.5:p.Glu24SerfsTer26 | |
ENST00000397797.1:c.-2+23del | ENSP00000380899.1:n.-2+23del | |
ENST00000472694.1:n.88del | ||
ENST00000487791.1:n.38del | ||
NM_000558.4:c.69del | NP_000549.1:p.Glu24SerfsTer26 | |
NM_000558.5:c.69del MANE Select | NP_000549.1:p.Glu24SerfsTer26 |