HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11847704_11847707dup , CM000663.2:g.11847704_11847707dup | GRCh38 |
NC_000001.10:g.11907761_11907764dup , CM000663.1:g.11907761_11907764dup | GRCh37 |
NC_000001.9:g.11830348_11830351dup | NCBI36 |
NG_012926.1:g.5078_5081dup , LRG_751:g.5078_5081dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000400892.3:c.*2089_*2092dup (CLCN6) | ENSP00000496938.1:n.*2089_*2092dup | |
ENST00000376476.1:c.-27-267_-27-264dup (NPPA) | ENSP00000365659.1:n.-27-267_-27-264dup | |
ENST00000376480.7:c.-22_-19dup (NPPA) MANE Select | ENSP00000365663.3:n.-22_-19dup | |
ENST00000610706.1:c.-22_-19dup (NPPA) | ENSP00000483195.1:n.-22_-19dup | |
NM_006172.3:c.-22_-19dup , LRG_751t1:c.-22_-19dup (NPPA) | NP_006163.1:n.-22_-19dup | |
NM_006172.4:c.-22_-19dup (NPPA) MANE Select | NP_006163.1:n.-22_-19dup |