HGVS | Genome Assembly |
---|---|
NC_000011.10:g.89178189_89178192dup , CM000673.2:g.89178189_89178192dup | GRCh38 |
NC_000011.9:g.88911357_88911360dup , CM000673.1:g.88911357_88911360dup | GRCh37 |
NC_000011.8:g.88551005_88551008dup | NCBI36 |
NG_008748.1:g.5318_5321dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263321.6:c.236_239dup MANE Select | ENSP00000263321.4:p.Trp80CysfsTer8 | |
ENST00000263321.5:c.236_239dup | ENSP00000263321.4:p.Trp80CysfsTer8 | |
ENST00000526139.1:n.297_300dup | ||
NM_000372.4:c.236_239dup | NP_000363.1:p.Trp80CysfsTer8 | |
XM_011542970.1:c.236_239dup | XP_011541272.1:p.Trp80CysfsTer8 | |
XM_011542970.2:c.236_239dup | XP_011541272.1:p.Trp80CysfsTer8 | |
XR_001748321.1:n.2718-64659_2718-64656dup | ||
XR_001748322.1:n.2733-64659_2733-64656dup | ||
NM_000372.5:c.236_239dup MANE Select | NP_000363.1:p.Trp80CysfsTer8 |