HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45987748_45987773dup , CM000683.2:g.45987748_45987773dup | GRCh38 |
NC_000021.8:g.47407662_47407687dup , CM000683.1:g.47407662_47407687dup | GRCh37 |
NC_000021.7:g.46232090_46232115dup | NCBI36 |
NG_008674.1:g.11000_11025dup , LRG_475:g.11000_11025dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.804+94_804+119dup MANE Select | ENSP00000355180.3:n.804+94_804+119dup | |
ENST00000361866.7:c.804+94_804+119dup | ENSP00000355180.3:n.804+94_804+119dup | |
ENST00000612273.1:c.804+94_804+119dup | ENSP00000483630.1:n.804+94_804+119dup | |
NM_001848.2:c.804+94_804+119dup , LRG_475t1:c.804+94_804+119dup | NP_001839.2:n.804+94_804+119dup | |
NM_001848.3:c.804+94_804+119dup MANE Select | NP_001839.2:n.804+94_804+119dup |