HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133353705del , CM000671.2:g.133353705del | GRCh38 |
NC_000009.10:g.135210381del | NCBI36 |
NG_008477.1:g.7802del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.515+44del MANE Select | ENSP00000361042.3:n.515+44del | |
ENST00000371974.7:c.515+44del | ENSP00000361042.3:n.515+44del | |
ENST00000437995.1:n.461+44del | ||
ENST00000495952.5:n.505+44del | ||
ENST00000615505.4:c.188+44del | ENSP00000482067.1:n.188+44del | |
NM_001280787.1:c.188+44del | NP_001267716.1:n.188+44del | |
NM_003172.3:c.515+44del | NP_003163.1:n.515+44del | |
XM_011518942.1:c.188+44del | XP_011517244.1:n.188+44del | |
NM_003172.4:c.515+44del MANE Select | NP_003163.1:n.515+44del |