HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19957281_19957297del , CM000670.2:g.19957281_19957297del | GRCh38 |
NC_000008.10:g.19814792_19814808del , CM000670.1:g.19814792_19814808del | GRCh37 |
NC_000008.9:g.19859072_19859088del | NCBI36 |
NG_008855.1:g.23211_23227del | |
NG_008855.2:g.60565_60581del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.1018+1198_1018+1214del MANE Select | ENSP00000497642.1:n.1018+1198_1018+1214del | |
ENST00000650478.1:c.79+1198_79+1214del | ENSP00000497560.1:n.79+1198_79+1214del | |
ENST00000311322.8:c.1018+1198_1018+1214del | ENSP00000309757.6:n.1018+1198_1018+1214del | |
NM_000237.2:c.1018+1198_1018+1214del | NP_000228.1:n.1018+1198_1018+1214del | |
NM_000237.3:c.1018+1198_1018+1214del MANE Select | NP_000228.1:n.1018+1198_1018+1214del |