HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186194535dup , CM000666.2:g.186194535dup | GRCh38 |
NC_000004.11:g.187115689dup , CM000666.1:g.187115689dup | GRCh37 |
NC_000004.10:g.187352683dup | NCBI36 |
NG_007965.1:g.8016dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378802.5:c.250dup MANE Select | ENSP00000368079.4:p.Tyr84LeufsTer21 | |
ENST00000378802.4:c.250dup | ENSP00000368079.4:p.Tyr84LeufsTer21 | |
NM_207352.3:c.250dup | NP_997235.3:p.Tyr84LeufsTer21 | |
XM_005262935.2:c.250dup | XP_005262992.1:p.Tyr84LeufsTer21 | |
XM_006714184.2:c.-61dup | XP_006714247.1:n.-61dup | |
XM_005262935.4:c.250dup | XP_005262992.1:p.Tyr84LeufsTer21 | |
XM_017008037.1:c.-61dup | XP_016863526.1:n.-61dup | |
NM_207352.4:c.250dup MANE Select | NP_997235.3:p.Tyr84LeufsTer21 |