HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94782254_94782255insTTTTTT , CM000672.2:g.94782254_94782255insTTTTTT | GRCh38 |
NC_000010.10:g.96542011_96542012insTTTTTT , CM000672.1:g.96542011_96542012insTTTTTT | GRCh37 |
NC_000010.9:g.96532001_96532002insTTTTTT | NCBI36 |
NG_008384.2:g.24549_24550insTTTTTT | |
NG_008384.3:g.24574_24575insTTTTTT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371321.9:c.819+257_819+258insTTTTTT MANE Select | ENSP00000360372.3:n.819+257_819+258insTTTTTT | |
ENST00000645461.1:n.1872+257_1872+258insTTTTTT | ||
ENST00000371321.7:c.819+257_819+258insTTTTTT | ENSP00000360372.3:n.819+257_819+258insTTTTTT | |
ENST00000464755.1:c.1582+257_1582+258insTTTTTT | ENSP00000483243.1:n.1582+257_1582+258insTTTTTT | |
NM_000769.2:c.819+257_819+258insTTTTTT | NP_000760.1:n.819+257_819+258insTTTTTT | |
NM_000769.4:c.819+257_819+258insTTTTTT MANE Select | NP_000760.1:n.819+257_819+258insTTTTTT |