HGVS | Genome Assembly |
---|---|
NC_000016.10:g.1986067_1986071del , CM000678.2:g.1986067_1986071del | GRCh38 |
NC_000016.9:g.2036068_2036072del , CM000678.1:g.2036068_2036072del | GRCh37 |
NC_000016.8:g.1976069_1976073del | NCBI36 |
NG_016288.1:g.6919_6923del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000567719.2:c.*39_*43del | ENSP00000455885.1:n.*39_*43del | |
ENST00000248114.7:c.*39_*43del MANE Select | ENSP00000248114.6:n.*39_*43del | |
ENST00000248114.6:c.*39_*43del | ENSP00000248114.6:n.*39_*43del | |
ENST00000565658.1:n.814_818del | ||
ENST00000567719.1:c.*39_*43del | ENSP00000455885.1:n.*39_*43del | |
ENST00000569451.1:c.*130_*134del | ENSP00000456432.1:n.*130_*134del | |
NM_005262.2:c.*39_*43del | NP_005253.3:n.*39_*43del | |
NM_005262.3:c.*39_*43del MANE Select | NP_005253.3:n.*39_*43del |