HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154902020_154902021del , CM000685.2:g.154902020_154902021del | GRCh38 |
NC_000023.10:g.154130295_154130296del , CM000685.1:g.154130295_154130296del | GRCh37 |
NC_000023.9:g.153783489_153783490del | NCBI36 |
NG_011403.1:g.125703_125704del | |
NG_011403.2:g.125703_125704del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6115+30_6115+31del MANE Select | ENSP00000353393.4:n.6115+30_6115+31del | |
ENST00000360256.8:c.6115+30_6115+31del | ENSP00000353393.4:n.6115+30_6115+31del | |
NM_000132.3:c.6115+30_6115+31del | NP_000123.1:n.6115+30_6115+31del | |
XM_011531126.1:c.6010+30_6010+31del | XP_011529428.1:n.6010+30_6010+31del | |
NM_000132.4:c.6115+30_6115+31del MANE Select | NP_000123.1:n.6115+30_6115+31del |