HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30308410_30308417del , CM000685.2:g.30308410_30308417del | GRCh38 |
NC_000023.10:g.30326527_30326534del , CM000685.1:g.30326527_30326534del | GRCh37 |
NC_000023.9:g.30236448_30236455del | NCBI36 |
NG_009814.1:g.5962_5969del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378970.5:c.947_954del MANE Select | ENSP00000368253.4:p.Met316LysfsTer? | |
ENST00000378963.1:c.62_69del | ENSP00000368246.1:p.Met21LysfsTer? | |
ENST00000378970.4:c.947_954del | ENSP00000368253.4:p.Met316LysfsTer? | |
NM_000475.4:c.947_954del | NP_000466.2:p.Met316LysfsTer? | |
NM_000475.5:c.947_954del MANE Select | NP_000466.2:p.Met316LysfsTer? |