HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78118225_78118226del , CM000685.2:g.78118225_78118226del | GRCh38 |
NC_000023.10:g.77373722_77373723del , CM000685.1:g.77373722_77373723del | GRCh37 |
NC_000023.9:g.77260378_77260379del | NCBI36 |
NG_008862.1:g.19057_19058del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373316.5:c.641+55_641+56del MANE Select | ENSP00000362413.4:n.641+55_641+56del | |
ENST00000644362.1:c.557+55_557+56del | ENSP00000496140.1:n.557+55_557+56del | |
ENST00000373316.4:c.641+55_641+56del | ENSP00000362413.4:n.641+55_641+56del | |
ENST00000491291.1:n.633+55_633+56del | ||
NM_000291.3:c.641+55_641+56del | NP_000282.1:n.641+55_641+56del | |
NM_000291.4:c.641+55_641+56del MANE Select | NP_000282.1:n.641+55_641+56del |