HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154953890_154953891del , CM000685.2:g.154953890_154953891del | GRCh38 |
NC_000023.10:g.154182165_154182166del , CM000685.1:g.154182165_154182166del | GRCh37 |
NC_000023.9:g.153835359_153835360del | NCBI36 |
NG_011403.1:g.73834_73835del | |
NG_011403.2:g.73834_73835del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1903+2_1903+3del MANE Select | ENSP00000353393.4:n.1903+2_1903+3del | |
ENST00000647125.1:c.*1779+2_*1779+3del | ENSP00000496062.1:n.*1779+2_*1779+3del | |
ENST00000360256.8:c.1903+2_1903+3del | ENSP00000353393.4:n.1903+2_1903+3del | |
NM_000132.3:c.1903+2_1903+3del | NP_000123.1:n.1903+2_1903+3del | |
XM_011531126.1:c.1798+2_1798+3del | XP_011529428.1:n.1798+2_1798+3del | |
NM_000132.4:c.1903+2_1903+3del MANE Select | NP_000123.1:n.1903+2_1903+3del |