HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52492577_52492578del , CM000674.2:g.52492577_52492578del | GRCh38 |
NC_000012.11:g.52886361_52886362del , CM000674.1:g.52886361_52886362del | GRCh37 |
NC_000012.10:g.51172628_51172629del | NCBI36 |
NG_008298.1:g.5820_5821del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000330722.7:c.540+71_540+72del MANE Select | ENSP00000369317.3:n.540+71_540+72del | |
ENST00000330722.6:c.540+71_540+72del | ENSP00000369317.3:n.540+71_540+72del | |
ENST00000549898.5:n.61+71_61+72del | ||
NM_005554.3:c.540+71_540+72del | NP_005545.1:n.540+71_540+72del | |
NM_005554.4:c.540+71_540+72del MANE Select | NP_005545.1:n.540+71_540+72del |