HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816154_4816160del , CM000681.2:g.4816154_4816160del | GRCh38 |
NC_000019.9:g.4816166_4816172del , CM000681.1:g.4816166_4816172del | GRCh37 |
NC_000019.8:g.4767166_4767172del | NCBI36 |
NG_031998.1:g.20592_20598del , LRG_358:g.20592_20598del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000248244.6:c.*88_*94del MANE Select | ENSP00000248244.4:n.*88_*94del | |
ENST00000248244.5:c.*88_*94del | ENSP00000248244.4:n.*88_*94del | |
NM_182919.3:c.*88_*94del , LRG_358t1:c.*88_*94del | NP_891549.1:n.*88_*94del | |
NM_001385678.1:c.*88_*94del | NP_001372607.1:n.*88_*94del | |
NM_001385679.1:c.*88_*94del | NP_001372608.1:n.*88_*94del | |
NM_001385680.1:c.*88_*94del | NP_001372609.1:n.*88_*94del | |
NM_182919.4:c.*88_*94del MANE Select | NP_891549.1:n.*88_*94del |