HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110911019_110911020del , CM000674.2:g.110911019_110911020del | GRCh38 |
NC_000012.11:g.111348823_111348824del , CM000674.1:g.111348823_111348824del | GRCh37 |
NC_000012.10:g.109833206_109833207del | NCBI36 |
NG_007554.1:g.14564_14565del , LRG_393:g.14564_14565del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228841.15:c.*63_*64del MANE Select | ENSP00000228841.8:n.*63_*64del | |
ENST00000663220.1:c.*63_*64del | ENSP00000499568.1:n.*63_*64del | |
ENST00000228841.12:c.*63_*64del | ENSP00000228841.7:n.*63_*64del | |
ENST00000548438.1:c.*63_*64del | ENSP00000447154.1:n.*63_*64del | |
NM_000432.3:c.*63_*64del , LRG_393t1:c.*63_*64del | NP_000423.2:n.*63_*64del | |
NM_000432.4:c.*63_*64del MANE Select | NP_000423.2:n.*63_*64del |