HGVS | Genome Assembly |
---|---|
NC_000016.10:g.74713605_74713607del , CM000678.2:g.74713605_74713607del | GRCh38 |
NC_000016.9:g.74747503_74747505del , CM000678.1:g.74747503_74747505del | GRCh37 |
NC_000016.8:g.73305004_73305006del | NCBI36 |
NG_017070.1:g.66228_66230del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219368.8:c.*586_*588del MANE Select | ENSP00000219368.3:n.*586_*588del | |
ENST00000219368.7:c.*586_*588del | ENSP00000219368.3:n.*586_*588del | |
ENST00000562145.1:n.1426_1428del | ||
ENST00000567683.5:c.*984_*986del | ENSP00000455126.1:n.*984_*986del | |
NM_024306.4:c.*586_*588del | NP_077282.3:n.*586_*588del | |
XM_011523319.1:c.*586_*588del | XP_011521621.1:n.*586_*588del | |
XM_011523319.2:c.*586_*588del | XP_011521621.1:n.*586_*588del | |
NM_024306.5:c.*586_*588del MANE Select | NP_077282.3:n.*586_*588del |