HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137567286_137567301del , CM000685.2:g.137567286_137567301del | GRCh38 |
NC_000023.10:g.136649445_136649460del , CM000685.1:g.136649445_136649460del | GRCh37 |
NC_000023.9:g.136477111_136477126del | NCBI36 |
NG_008115.1:g.6100_6115del | |
NG_008115.2:g.6160_6175del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.595_610del MANE Select | ENSP00000287538.5:p.Tyr199AlafsTer19 | |
ENST00000287538.9:c.595_610del | ENSP00000287538.5:p.Tyr199AlafsTer19 | |
ENST00000370606.3:c.595_610del | ENSP00000359638.3:p.Tyr199AlafsTer19 | |
NM_003413.3:c.595_610del | NP_003404.1:p.Tyr199AlafsTer19 | |
NM_001330661.1:c.595_610del | NP_001317590.1:p.Tyr199AlafsTer19 | |
NM_003413.4:c.595_610del MANE Select | NP_003404.1:p.Tyr199AlafsTer19 |