HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40843687_40843715del , CM000681.2:g.40843687_40843715del | GRCh38 |
NC_000019.9:g.41349592_41349620del , CM000681.1:g.41349592_41349620del | GRCh37 |
NC_000019.8:g.46041432_46041460del | NCBI36 |
NG_008377.1:g.11733_11761del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301141.10:c.*81_*109del MANE Select | ENSP00000301141.4:n.*81_*109del | |
ENST00000301141.9:c.*81_*109del | ENSP00000301141.4:n.*81_*109del | |
ENST00000599960.1:n.485_513del | ||
ENST00000601627.1:c.119+42272_119+42300del | ||
NM_000762.5:c.*81_*109del | NP_000753.3:n.*81_*109del | |
NM_000762.6:c.*81_*109del MANE Select | NP_000753.3:n.*81_*109del |