HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74751918_74751932dup , CM000677.2:g.74751918_74751932dup | GRCh38 |
NC_000015.9:g.75044259_75044273dup , CM000677.1:g.75044259_75044273dup | GRCh37 |
NC_000015.8:g.72831312_72831326dup | NCBI36 |
NG_008431.1:g.34377_34391dup | |
NG_008431.2:g.34377_34391dup | |
NG_061543.1:g.8074_8088dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343932.5:c.1042+64_1042+78dup MANE Select | ENSP00000342007.4:n.1042+64_1042+78dup | |
ENST00000343932.4:c.1042+64_1042+78dup | ENSP00000342007.4:n.1042+64_1042+78dup | |
NM_000761.4:c.1042+64_1042+78dup | NP_000752.2:n.1042+64_1042+78dup | |
NM_000761.5:c.1042+64_1042+78dup MANE Select | NP_000752.2:n.1042+64_1042+78dup |