HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111119015_111119016del , CM000667.2:g.111119015_111119016del | GRCh38 |
NC_000005.9:g.110454713_110454714del , CM000667.1:g.110454713_110454714del | GRCh37 |
NC_000005.8:g.110482612_110482613del | NCBI36 |
NG_008979.1:g.31844_31845del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000513710.4:c.1799_1800del MANE Select | ENSP00000424628.3:p.Leu600HisfsTer? | |
ENST00000506538.6:c.1967_1968del | ENSP00000423067.2:p.Leu656HisfsTer? | |
ENST00000513710.3:c.1799_1800del | ENSP00000424628.3:p.Leu600HisfsTer? | |
ENST00000612402.4:c.1967_1968del | ENSP00000479950.1:p.Leu656HisfsTer? | |
NM_139281.2:c.1967_1968del | NP_644810.1:p.Leu656HisfsTer? | |
XM_011543163.1:c.1967_1968del | XP_011541465.1:p.Leu656HisfsTer? | |
NM_139281.3:c.1799_1800del MANE Select | NP_644810.2:p.Leu600HisfsTer? |