HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52516755_52516766dup , CM000674.2:g.52516755_52516766dup | GRCh38 |
NC_000012.11:g.52910539_52910550dup , CM000674.1:g.52910539_52910550dup | GRCh37 |
NC_000012.10:g.51196806_51196817dup | NCBI36 |
NG_008297.1:g.8699_8710dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.9:c.1315_1326dup MANE Select | ENSP00000252242.4:p.Ala442_Lys443insLeuGlnLysAla | |
ENST00000252242.8:c.1315_1326dup | ENSP00000252242.4:p.Ala442_Lys443insLeuGlnLysAla | |
ENST00000547890.5:n.693_704dup | ||
ENST00000548409.5:c.437_448dup | ||
ENST00000549511.5:n.522_533dup | ||
ENST00000552629.5:n.1413_1424dup | ||
NM_000424.3:c.1315_1326dup | NP_000415.2:p.Ala442_Lys443insLeuGlnLysAla | |
NM_000424.4:c.1315_1326dup MANE Select | NP_000415.2:p.Ala442_Lys443insLeuGlnLysAla |