HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148826978_148827013del , CM000667.2:g.148826978_148827013del | GRCh38 |
NC_000005.9:g.148206541_148206576del , CM000667.1:g.148206541_148206576del | GRCh37 |
NC_000005.8:g.148186734_148186769del | NCBI36 |
NG_016421.1:g.5386_5421del | |
NG_016421.2:g.5386_5421del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000305988.6:c.147_182del MANE Select | ENSP00000305372.4:p.Gly50_Phe61del | |
ENST00000305988.5:c.147_182del | ENSP00000305372.4:p.Gly50_Phe61del | |
NM_000024.5:c.147_182del | NP_000015.1:p.Gly50_Phe61del | |
NM_000024.6:c.147_182del MANE Select | NP_000015.2:p.Gly50_Phe61del |