HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218882190dup , CM000664.2:g.218882190dup | GRCh38 |
NC_000002.11:g.219746912dup , CM000664.1:g.219746912dup | GRCh37 |
NC_000002.10:g.219455156dup | NCBI36 |
NG_012179.1:g.6658dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.143dup MANE Select | ENSP00000258411.3:p.Leu49ProfsTer? | |
ENST00000258411.7:c.143dup | ENSP00000258411.3:p.Leu49ProfsTer? | |
ENST00000458582.1:c.30dup | ||
NM_025216.2:c.143dup | NP_079492.2:p.Leu49ProfsTer? | |
XM_011511928.1:c.92dup | XP_011510230.1:p.Leu32ProfsTer? | |
XM_011511929.1:c.47dup | XP_011510231.1:p.Leu17ProfsTer? | |
XM_011511930.1:c.143dup | XP_011510232.1:p.Leu49ProfsTer? | |
XM_011511929.2:c.47dup | XP_011510231.1:p.Leu17ProfsTer? | |
NM_025216.3:c.143dup MANE Select | NP_079492.2:p.Leu49ProfsTer? |