HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37727813_37727814del , CM000685.2:g.37727813_37727814del | GRCh38 |
NC_000023.10:g.37587066_37587067del , CM000685.1:g.37587066_37587067del | GRCh37 |
NC_000023.9:g.37472005_37472006del | NCBI36 |
NG_007473.1:g.46954_46955del | |
NG_007473.3:g.46934_46935del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378616.5:c.686_687del MANE Select | ENSP00000367879.3:p.Phe229TyrfsTer? | |
ENST00000378616.3:c.686_687del | ENSP00000367879.3:p.Phe229TyrfsTer? | |
ENST00000465127.1:c.171+301813_171+301814del | ENSP00000417050.1:n.171+301813_171+301814del | |
NM_021083.2:c.686_687del | NP_066569.1:p.Phe229TyrfsTer? | |
NM_021083.4:c.686_687del MANE Select | NP_066569.1:p.Phe229TyrfsTer? |