HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174729320dup , CM000667.2:g.174729320dup | GRCh38 |
NC_000005.9:g.174156323dup , CM000667.1:g.174156323dup | GRCh37 |
NC_000005.8:g.174088929dup | NCBI36 |
NG_008124.1:g.9749dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239243.7:c.541dup MANE Select | ENSP00000239243.5:p.Leu181ProfsTer? | |
ENST00000239243.6:c.541dup | ENSP00000239243.5:p.Leu181ProfsTer? | |
ENST00000507785.2:c.*165dup | ENSP00000427425.1:n.*165dup | |
NM_002449.4:c.541dup | NP_002440.2:p.Leu181ProfsTer? | |
NM_001363626.1:c.*165dup | NP_001350555.1:n.*165dup | |
NM_002449.5:c.541dup MANE Select | NP_002440.2:p.Leu181ProfsTer? | |
NM_001363626.2:c.*165dup | NP_001350555.1:n.*165dup |