HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37734378_37734389del , CM000684.2:g.37734378_37734389del | GRCh38 |
NC_000022.10:g.38130385_38130396del , CM000684.1:g.38130385_38130396del | GRCh37 |
NC_000022.9:g.36460331_36460342del | NCBI36 |
NG_012857.1:g.42391_42402del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644935.1:c.4063-21_4063-10del MANE Select | ENSP00000496394.1:n.4063-21_4063-10del | |
ENST00000344404.10:c.*3546-21_*3546-10del | ENSP00000340312.6:n.*3546-21_*3546-10del | |
ENST00000406386.7:c.4063-21_4063-10del | ENSP00000384312.3:n.4063-21_4063-10del | |
NM_001039141.2:c.4063-21_4063-10del | NP_001034230.1:n.4063-21_4063-10del | |
XM_011530646.1:c.512-4022_512-4011del | XP_011528948.1:n.512-4022_512-4011del | |
NM_001039141.3:c.4063-21_4063-10del MANE Select | NP_001034230.1:n.4063-21_4063-10del |