HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57562813_57562814delinsAA , CM000682.2:g.57562813_57562814delinsAA | GRCh38 |
NC_000020.10:g.56137869_56137870delinsAA , CM000682.1:g.56137869_56137870delinsAA | GRCh37 |
NC_000020.9:g.55571275_55571276delinsAA | NCBI36 |
NG_008205.1:g.6733_6734delinsAA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.524_525delinsAA MANE Select | ENSP00000319814.4:p.Arg175Gln | |
ENST00000319441.5:c.524_525delinsAA | ENSP00000319814.4:p.Arg175Gln | |
ENST00000467047.1:n.1734_1735delinsAA | ||
ENST00000498194.1:n.466_467delinsAA | ||
NM_002591.3:c.524_525delinsAA | NP_002582.3:p.Arg175Gln | |
XM_011528839.1:c.128_129delinsAA | XP_011527141.1:p.Arg43Gln | |
XM_024451888.1:c.128_129delinsAA | XP_024307656.1:p.Arg43Gln | |
NM_002591.4:c.524_525delinsAA MANE Select | NP_002582.3:p.Arg175Gln |