HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652100_171652104del , CM000663.2:g.171652100_171652104del | GRCh38 |
NC_000001.10:g.171621240_171621244del , CM000663.1:g.171621240_171621244del | GRCh37 |
NC_000001.9:g.169887863_169887867del | NCBI36 |
NG_008859.1:g.5530_5534del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.508_512del MANE Select | ENSP00000037502.5:p.Leu170LysfsTer? | |
ENST00000638471.1:c.130+378_130+382del | ENSP00000491206.1:n.130+378_130+382del | |
ENST00000037502.10:c.508_512del | ENSP00000037502.5:p.Leu170LysfsTer? | |
ENST00000614688.1:c.508_512del | ENSP00000478680.1:p.Leu170LysfsTer? | |
NM_000261.1:c.508_512del | NP_000252.1:p.Leu170LysfsTer? | |
NM_000261.2:c.508_512del MANE Select | NP_000252.1:p.Leu170LysfsTer? |