HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107696015del , CM000669.2:g.107696015del | GRCh38 |
NC_000007.13:g.107336460del , CM000669.1:g.107336460del | GRCh37 |
NC_000007.12:g.107123696del | NCBI36 |
NG_008489.1:g.40381del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.1520del MANE Select | ENSP00000494017.1:p.Leu507Ter | |
ENST00000644846.1:c.231del | ||
ENST00000265715.7:c.1520del | ENSP00000265715.3:p.Leu507Ter | |
ENST00000477350.5:n.367del | ||
ENST00000480841.5:n.369del | ||
ENST00000497446.5:n.535del | ||
NM_000441.1:c.1520del | NP_000432.1:p.Leu507Ter | |
XM_005250425.1:c.1520del | XP_005250482.1:p.Leu507Ter | |
XM_005250425.2:c.1520del | XP_005250482.1:p.Leu507Ter | |
XM_017012318.1:c.1442del | XP_016867807.1:p.Leu481Ter | |
NM_000441.2:c.1520del MANE Select | NP_000432.1:p.Leu507Ter |