HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101424975_101424977del , CM000671.2:g.101424975_101424977del | GRCh38 |
NC_000009.11:g.104187257_104187259del , CM000671.1:g.104187257_104187259del | GRCh37 |
NC_000009.10:g.103227078_103227080del | NCBI36 |
NG_012387.1:g.15804_15806del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647789.2:c.865_867del MANE Select | ENSP00000497767.1:p.Leu289del | |
ENST00000648064.1:c.865_867del | ENSP00000497990.1:p.Leu289del | |
ENST00000648758.1:c.865_867del | ENSP00000497731.1:p.Leu289del | |
ENST00000649902.1:c.865_867del | ENSP00000497216.1:p.Leu289del | |
ENST00000374855.8:c.865_867del | ENSP00000363988.4:p.Leu289del | |
ENST00000616752.1:c.865_867del | ENSP00000481363.1:p.Leu289del | |
NM_000035.3:c.865_867del | NP_000026.2:p.Leu289del | |
NM_000035.4:c.865_867del MANE Select | NP_000026.2:p.Leu289del |