HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516398_52516399delinsGC , CM000674.2:g.52516398_52516399delinsGC | GRCh38 |
NC_000012.11:g.52910182_52910183delinsGC , CM000674.1:g.52910182_52910183delinsGC | GRCh37 |
NC_000012.10:g.51196449_51196450delinsGC | NCBI36 |
NG_008297.1:g.9061_9062delinsGC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1439+238_1439+239delinsGC MANE Select | ENSP00000252242.4:n.1439+238_1439+239delinsGC | |
ENST00000252242.8:c.1439+238_1439+239delinsGC | ENSP00000252242.4:n.1439+238_1439+239delinsGC | |
ENST00000548409.5:c.561+238_561+239delinsGC | ||
ENST00000549511.5:n.646+238_646+239delinsGC | ||
ENST00000552629.5:n.1775_1776delinsGC | ||
NM_000424.3:c.1439+238_1439+239delinsGC | NP_000415.2:n.1439+238_1439+239delinsGC | |
NM_000424.4:c.1439+238_1439+239delinsGC MANE Select | NP_000415.2:n.1439+238_1439+239delinsGC |