HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171652263del , CM000663.2:g.171652263del | GRCh38 |
NC_000001.10:g.171621403del , CM000663.1:g.171621403del | GRCh37 |
NC_000001.9:g.169888026del | NCBI36 |
NG_008859.1:g.5371del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000037502.11:c.349del MANE Select | ENSP00000037502.5:p.Leu117CysfsTer8 | |
ENST00000638471.1:c.130+219del | ENSP00000491206.1:n.130+219del | |
ENST00000037502.10:c.349del | ENSP00000037502.5:p.Leu117CysfsTer8 | |
ENST00000614688.1:c.349del | ENSP00000478680.1:p.Leu117CysfsTer8 | |
NM_000261.1:c.349del | NP_000252.1:p.Leu117CysfsTer8 | |
NM_000261.2:c.349del MANE Select | NP_000252.1:p.Leu117CysfsTer8 |