HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218893182dup , CM000664.2:g.218893182dup | GRCh38 |
NC_000002.11:g.219757904dup , CM000664.1:g.219757904dup | GRCh37 |
NC_000002.10:g.219466148dup | NCBI36 |
NG_012179.1:g.17650dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.1165dup MANE Select | ENSP00000258411.3:p.Ser389LysfsTer? | |
ENST00000258411.7:c.1165dup | ENSP00000258411.3:p.Ser389LysfsTer? | |
NM_025216.2:c.1165dup | NP_079492.2:p.Ser389LysfsTer? | |
XM_011511928.1:c.1114dup | XP_011510230.1:p.Ser372LysfsTer? | |
XM_011511929.1:c.1069dup | XP_011510231.1:p.Ser357LysfsTer? | |
XM_011511930.1:c.785dup | XP_011510232.1:p.Arg263AlafsTer? | |
XM_011511929.2:c.1069dup | XP_011510231.1:p.Ser357LysfsTer? | |
NM_025216.3:c.1165dup MANE Select | NP_079492.2:p.Ser389LysfsTer? |