HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101421787_101421788del , CM000671.2:g.101421787_101421788del | GRCh38 |
NC_000009.11:g.104184069_104184070del , CM000671.1:g.104184069_104184070del | GRCh37 |
NC_000009.10:g.103223890_103223891del | NCBI36 |
NG_012387.1:g.18993_18994del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647789.2:c.*21_*22del MANE Select | ENSP00000497767.1:n.*21_*22del | |
ENST00000648064.1:c.*21_*22del | ENSP00000497990.1:n.*21_*22del | |
ENST00000648758.1:c.*21_*22del | ENSP00000497731.1:n.*21_*22del | |
ENST00000374855.8:c.*21_*22del | ENSP00000363988.4:n.*21_*22del | |
ENST00000616752.1:c.*128_*129del | ENSP00000481363.1:n.*128_*129del | |
NM_000035.3:c.*21_*22del | NP_000026.2:n.*21_*22del | |
NM_000035.4:c.*21_*22del MANE Select | NP_000026.2:n.*21_*22del |