HGVS | Genome Assembly |
---|---|
NC_000008.11:g.23682792_23682807dup , CM000670.2:g.23682792_23682807dup | GRCh38 |
NC_000008.10:g.23540305_23540320dup , CM000670.1:g.23540305_23540320dup | GRCh37 |
NC_000008.9:g.23596250_23596265dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380871.5:c.84_99dup MANE Select | ENSP00000370253.4:p.Ile34LeufsTer? | |
ENST00000380871.4:c.84_99dup | ENSP00000370253.4:p.Ile34LeufsTer? | |
ENST00000523261.1:c.33+51_33+66dup | ENSP00000429729.1:n.33+51_33+66dup | |
NM_001256339.1:c.33+51_33+66dup | NP_001243268.1:n.33+51_33+66dup | |
NM_006167.3:c.84_99dup | NP_006158.2:p.Ile34LeufsTer? | |
NR_046072.1:n.18+98_18+113dup | ||
XR_001745842.1:n.1312+14042_1312+14057dup | ||
NM_006167.4:c.84_99dup MANE Select | NP_006158.2:p.Ile34LeufsTer? | |
NR_046072.2:n.35+98_35+113dup |