HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110780888_110780904del , CM000672.2:g.110780888_110780904del | GRCh38 |
NC_000010.10:g.112540646_112540662del , CM000672.1:g.112540646_112540662del | GRCh37 |
NC_000010.9:g.112530636_112530652del | NCBI36 |
NG_021177.1:g.141492_141508del , LRG_382:g.141492_141508del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369519.4:c.279_295del MANE Select | ENSP00000358532.3:p.Gln93HisfsTer? | |
ENST00000369519.3:c.279_295del | ENSP00000358532.3:p.Gln93HisfsTer? | |
NM_001134363.2:c.279_295del | NP_001127835.2:p.Gln93HisfsTer? | |
XM_011539697.1:c.-106_-90del | XP_011537999.1:n.-106_-90del | |
XM_017016103.2:c.114_130del | XP_016871592.1:p.Gln38HisfsTer? | |
XM_017016104.2:c.-106_-90del | XP_016871593.1:n.-106_-90del | |
NM_001134363.3:c.279_295del MANE Select | NP_001127835.2:p.Gln93HisfsTer? |