HGVS | Genome Assembly |
---|---|
NC_000022.11:g.36564892_36564896del , CM000684.2:g.36564892_36564896del | GRCh38 |
NC_000022.10:g.36960939_36960943del , CM000684.1:g.36960939_36960943del | GRCh37 |
NC_000022.9:g.35290885_35290889del | NCBI36 |
NG_031861.1:g.142751_142755del | |
NG_031861.2:g.142966_142970del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300105.7:c.437-7_437-3del MANE Select | ENSP00000300105.6:n.437-7_437-3del | |
ENST00000300105.6:c.437-7_437-3del | ENSP00000300105.6:n.437-7_437-3del | |
NM_006078.3:c.437-7_437-3del | NP_006069.1:n.437-7_437-3del | |
NM_006078.4:c.437-7_437-3del | NP_006069.1:n.437-7_437-3del | |
XM_017028531.2:c.179-7_179-3del | XP_016884020.1:n.179-7_179-3del | |
NM_001379051.1:c.368-7_368-3del | NP_001365980.1:n.368-7_368-3del | |
NM_006078.5:c.437-7_437-3del MANE Select | NP_006069.1:n.437-7_437-3del | |
NR_166440.1:n.1803-7_1803-3del |