HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128946076_128946083del , CM000671.2:g.128946076_128946083del | GRCh38 |
NC_000009.11:g.131708355_131708362del , CM000671.1:g.131708355_131708362del | GRCh37 |
NC_000009.10:g.130748176_130748183del | NCBI36 |
NG_017009.1:g.6653_6660del , LRG_744:g.6653_6660del | |
NG_033111.1:g.3384_3391del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372586.4:c.1223_1230del MANE Select | ENSP00000361667.3:p.His408ProfsTer21 | |
ENST00000372586.3:c.1223_1230del | ENSP00000361667.3:p.His408ProfsTer21 | |
ENST00000482796.1:c.39-3113_39-3106del | ENSP00000417556.2:n.39-3113_39-3106del | |
NM_014908.3:c.1223_1230del , LRG_744t1:c.1223_1230del | NP_055723.1:p.His408ProfsTer21 | |
NM_014908.4:c.1223_1230del MANE Select | NP_055723.1:p.His408ProfsTer21 |