HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123937_72123954del , CM000679.2:g.72123937_72123954del | GRCh38 |
NC_000017.10:g.70120078_70120095del , CM000679.1:g.70120078_70120095del | GRCh37 |
NC_000017.9:g.67631673_67631690del | NCBI36 |
NG_012490.1:g.7918_7935del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.1080_1097del MANE Select | ENSP00000245479.2:p.Gln361_Pro366del | |
ENST00000245479.2:c.1080_1097del | ENSP00000245479.2:p.Gln361_Pro366del | |
NM_000346.3:c.1080_1097del | NP_000337.1:p.Gln361_Pro366del | |
NM_000346.4:c.1080_1097del MANE Select | NP_000337.1:p.Gln361_Pro366del |