HGVS | Genome Assembly |
---|---|
NC_000007.14:g.27095484del , CM000669.2:g.27095484del | GRCh38 |
NC_000007.13:g.27135103del , CM000669.1:g.27135103del | GRCh37 |
NC_000007.12:g.27101628del | NCBI36 |
NG_011813.1:g.5524del | |
NG_033087.1:g.4391del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000643460.2:c.430del MANE Select | ENSP00000494260.2:p.His144ThrfsTer? | |
ENST00000343060.4:c.430del | ENSP00000343246.4:p.His144ThrfsTer? | |
ENST00000355633.5:c.354+76del | ENSP00000347851.5:n.354+76del | |
NM_005522.4:c.430del | NP_005513.1:p.His144ThrfsTer? | |
NM_153620.2:c.354+76del | NP_705873.2:n.354+76del | |
NM_005522.5:c.430del MANE Select | NP_005513.2:p.His144ThrfsTer? | |
NM_153620.3:c.354+76del | NP_705873.3:n.354+76del |