HGVS | Genome Assembly |
---|---|
NC_000006.12:g.16290545_16290548dup , CM000668.2:g.16290545_16290548dup | GRCh38 |
NC_000006.11:g.16290776_16290779dup , CM000668.1:g.16290776_16290779dup | GRCh37 |
NC_000006.10:g.16398755_16398758dup | NCBI36 |
NG_013303.1:g.56966_56969dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259727.5:c.781_784dup MANE Select | ENSP00000259727.4:p.Lys262ThrfsTer12 | |
ENST00000259727.4:c.781_784dup | ENSP00000259727.4:p.Lys262ThrfsTer12 | |
ENST00000540478.1:n.601_604dup | ||
ENST00000543191.5:n.276_279dup | ||
ENST00000544145.1:n.135_138dup | ||
NM_006877.3:c.781_784dup | NP_006868.3:p.Lys262ThrfsTer12 | |
XM_011514508.1:c.924_927dup | XP_011512810.1:p.Ser310ArgfsTer? | |
XM_011514508.2:c.924_927dup | XP_011512810.1:p.Ser310ArgfsTer? | |
NM_006877.4:c.781_784dup MANE Select | NP_006868.3:p.Lys262ThrfsTer12 |