HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89919802_89920805del , CM000678.2:g.89919802_89920805del | GRCh38 |
NC_000016.9:g.89986210_89987213del , CM000678.1:g.89986210_89987213del | GRCh37 |
NC_000016.8:g.88513711_88514714del | NCBI36 |
NG_012026.1:g.6924_7927del | |
NG_027810.1:g.2794_3797del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555147.2:c.544_*593del MANE Select | ENSP00000451605.1:n.[c.544_*593del;Tyr182LeufsTer?] | |
ENST00000639847.1:c.544_*593del | ENSP00000492011.1:n.[c.544_*593del;Tyr182LeufsTer?] | |
ENST00000555147.1:c.544_*593del | ENSP00000451605.1:n.[c.544_*593del;Tyr182LeufsTer?] | |
ENST00000555427.1:c.544_*17del | ||
ENST00000556922.1:c.544_1098+68del | ||
NM_002386.3:c.544_*593del | NP_002377.4:n.[c.544_*593del;Tyr182LeufsTer?] | |
NM_002386.4:c.544_*593del MANE Select | NP_002377.4:n.[c.544_*593del;Tyr182LeufsTer?] |