HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100647170_100647171dup , CM000669.2:g.100647170_100647171dup | GRCh38 |
NC_000007.13:g.100244793_100244794dup , CM000669.1:g.100244793_100244794dup | GRCh37 |
NC_000007.12:g.100082729_100082730dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000160382.10:c.821+52_821+53dup MANE Select | ENSP00000160382.5:n.821+52_821+53dup | |
ENST00000160382.9:c.821+52_821+53dup | ENSP00000160382.5:n.821+52_821+53dup | |
ENST00000487125.1:n.357+52_357+53dup | ||
NM_016188.4:c.821+52_821+53dup | NP_057272.1:n.821+52_821+53dup | |
XR_927476.1:n.928+52_928+53dup | ||
NR_134539.1:n.928+52_928+53dup | ||
NM_016188.5:c.821+52_821+53dup MANE Select | NP_057272.1:n.821+52_821+53dup | |
NR_134539.2:n.915+52_915+53dup |