HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7933999_7934000delinsAC , CM000681.2:g.7933999_7934000delinsAC | GRCh38 |
NC_000019.9:g.7998884_7998885delinsAC , CM000681.1:g.7998884_7998885delinsAC | GRCh37 |
NC_000019.8:g.7904884_7904885delinsAC | NCBI36 |
NG_051180.1:g.14824_14825delinsGT |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270538.8:c.547_548delinsGT MANE Select | ENSP00000270538.2:p.Val183= | |
ENST00000270538.7:c.547_548delinsGT | ENSP00000270538.2:p.Val183= | |
ENST00000595831.5:c.534_535delinsGT | ||
ENST00000595876.5:c.*235_*236delinsGT | ENSP00000471596.1:n.*235_*236delinsGT | |
ENST00000597926.1:c.451_452delinsGT | ENSP00000469389.1:p.Val151= | |
ENST00000600748.5:n.532_533delinsGT | ||
NM_006351.3:c.547_548delinsGT | NP_006342.2:p.Val183= | |
NM_006351.4:c.547_548delinsGT MANE Select | NP_006342.2:p.Val183= |