HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117348_19117349del , CM000669.2:g.19117348_19117349del | GRCh38 |
NC_000007.13:g.19156971_19156972del , CM000669.1:g.19156971_19156972del | GRCh37 |
NC_000007.12:g.19123496_19123497del | NCBI36 |
NG_008114.1:g.5326_5327del | |
NG_008114.2:g.5326_5327del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.-26_-25del MANE Select | ENSP00000242261.5:n.-26_-25del | |
ENST00000242261.5:c.-26_-25del | ENSP00000242261.5:n.-26_-25del | |
NM_000474.3:c.-26_-25del | NP_000465.1:n.-26_-25del | |
XM_011515496.1:c.-26_-25del | XP_011513798.1:n.-26_-25del | |
NR_149001.1:n.326_327del | ||
NM_000474.4:c.-26_-25del MANE Select | NP_000465.1:n.-26_-25del | |
NR_149001.2:n.290_291del |