HGVS | Genome Assembly |
---|---|
NC_000015.10:g.74752112_74752113insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG , CM000677.2:g.74752112_74752113insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG | GRCh38 |
NC_000015.9:g.75044453_75044454insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG , CM000677.1:g.75044453_75044454insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG | GRCh37 |
NC_000015.8:g.72831506_72831507insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG | NCBI36 |
NG_008431.1:g.34571_34572insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG | |
NG_008431.2:g.34571_34572insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG | |
NG_061543.1:g.8268_8269insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000343932.5:c.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG MANE Select | ENSP00000342007.4:n.1043-12_1043-11insTGG... | |
ENST00000343932.4:c.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG | ENSP00000342007.4:n.1043-12_1043-11insTGG... | |
NM_000761.4:c.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG | NP_000752.2:n.1043-12_1043-11insTGGAGCAAC... | |
NM_000761.5:c.1043-12_1043-11insTGGAGCAACGTTCAGCCTTTGACCTTGGAAGTGCCAGAG MANE Select | NP_000752.2:n.1043-12_1043-11insTGGAGCAAC... |