HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612330del , CM000679.2:g.41612330del | GRCh38 |
NC_000017.10:g.39768582del , CM000679.1:g.39768582del | GRCh37 |
NC_000017.9:g.37022108del | NCBI36 |
NG_008301.1:g.5499del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301653.9:c.360del MANE Select | ENSP00000301653.3:p.Met121CysfsTer27 | |
ENST00000301653.8:c.360del | ENSP00000301653.3:p.Met121CysfsTer27 | |
ENST00000588319.1:n.437del | ||
ENST00000593067.1:c.-312-43del | ENSP00000467124.1:n.-312-43del | |
NM_005557.3:c.360del | NP_005548.2:p.Met121CysfsTer27 | |
NM_005557.4:c.360del MANE Select | NP_005548.2:p.Met121CysfsTer27 |