HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117252del , CM000669.2:g.19117252del | GRCh38 |
NC_000007.13:g.19156875del , CM000669.1:g.19156875del | GRCh37 |
NC_000007.12:g.19123400del | NCBI36 |
NG_008114.1:g.5422del | |
NG_008114.2:g.5422del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.71del MANE Select | ENSP00000242261.5:p.Pro24GlnfsTer? | |
ENST00000242261.5:c.71del | ENSP00000242261.5:p.Pro24GlnfsTer? | |
NM_000474.3:c.71del | NP_000465.1:p.Pro24GlnfsTer? | |
XM_011515496.1:c.71del | XP_011513798.1:p.Pro24GlnfsTer? | |
NR_149001.1:n.422del | ||
NM_000474.4:c.71del MANE Select | NP_000465.1:p.Pro24GlnfsTer? | |
NR_149001.2:n.386del |