HGVS | Genome Assembly |
---|---|
NC_000022.11:g.37733272_37733274del , CM000684.2:g.37733272_37733274del | GRCh38 |
NC_000022.10:g.38129279_38129281del , CM000684.1:g.38129279_38129281del | GRCh37 |
NC_000022.9:g.36459225_36459227del | NCBI36 |
NG_012857.1:g.41285_41287del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644935.1:c.3948-26_3948-24del MANE Select | ENSP00000496394.1:n.3948-26_3948-24del | |
ENST00000344404.10:c.*3431-26_*3431-24del | ENSP00000340312.6:n.*3431-26_*3431-24del | |
ENST00000406386.7:c.3948-26_3948-24del | ENSP00000384312.3:n.3948-26_3948-24del | |
NM_001039141.2:c.3948-26_3948-24del | NP_001034230.1:n.3948-26_3948-24del | |
XM_011530646.1:c.512-2915_512-2913del | XP_011528948.1:n.512-2915_512-2913del | |
NM_001039141.3:c.3948-26_3948-24del MANE Select | NP_001034230.1:n.3948-26_3948-24del |