HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137567094_137567097del , CM000685.2:g.137567094_137567097del | GRCh38 |
NC_000023.10:g.136649253_136649256del , CM000685.1:g.136649253_136649256del | GRCh37 |
NC_000023.9:g.136476919_136476922del | NCBI36 |
NG_008115.1:g.5908_5911del | |
NG_008115.2:g.5968_5971del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.403_406del MANE Select | ENSP00000287538.5:p.Gly135SerfsTer? | |
ENST00000287538.9:c.403_406del | ENSP00000287538.5:p.Gly135SerfsTer? | |
ENST00000370606.3:c.403_406del | ENSP00000359638.3:p.Gly135SerfsTer? | |
NM_003413.3:c.403_406del | NP_003404.1:p.Gly135SerfsTer? | |
NM_001330661.1:c.403_406del | NP_001317590.1:p.Gly135SerfsTer? | |
NM_003413.4:c.403_406del MANE Select | NP_003404.1:p.Gly135SerfsTer? |