HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44376249dup , CM000679.2:g.44376249dup | GRCh38 |
NC_000017.10:g.42453617dup , CM000679.1:g.42453617dup | GRCh37 |
NC_000017.9:g.39809143dup | NCBI36 |
NG_008331.1:g.18257dup , LRG_479:g.18257dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000262407.6:c.2348+59dup MANE Select | ENSP00000262407.5:n.2348+59dup | |
ENST00000648408.1:c.1779+59dup | ||
ENST00000262407.5:c.2348+59dup | ENSP00000262407.5:n.2348+59dup | |
ENST00000592462.5:n.1143+59dup | ||
NM_000419.3:c.2348+59dup , LRG_479t1:c.2348+59dup | NP_000410.2:n.2348+59dup | |
XM_011524749.1:c.2348+59dup | XP_011523051.1:n.2348+59dup | |
XM_011524750.1:c.2348+59dup | XP_011523052.1:n.2348+59dup | |
NM_000419.4:c.2348+59dup | NP_000410.2:n.2348+59dup | |
NM_000419.5:c.2348+59dup MANE Select | NP_000410.2:n.2348+59dup |