HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116899_19116923dup , CM000669.2:g.19116899_19116923dup | GRCh38 |
NC_000007.13:g.19156522_19156546dup , CM000669.1:g.19156522_19156546dup | GRCh37 |
NC_000007.12:g.19123047_19123071dup | NCBI36 |
NG_008114.1:g.5750_5774dup | |
NG_008114.2:g.5750_5774dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.399_423dup MANE Select | ENSP00000242261.5:p.Lys142AspfsTer? | |
ENST00000242261.5:c.399_423dup | ENSP00000242261.5:p.Lys142AspfsTer? | |
ENST00000354571.5:c.196_220dup | ||
ENST00000443687.5:c.2_26dup | ||
NM_000474.3:c.399_423dup | NP_000465.1:p.Lys142AspfsTer? | |
XM_011515496.1:c.399_423dup | XP_011513798.1:p.Lys142AspfsTer? | |
NR_149001.1:n.750_774dup | ||
NM_000474.4:c.399_423dup MANE Select | NP_000465.1:p.Lys142AspfsTer? | |
NR_149001.2:n.714_738dup |