HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116916_19116936del , CM000669.2:g.19116916_19116936del | GRCh38 |
NC_000007.13:g.19156539_19156559del , CM000669.1:g.19156539_19156559del | GRCh37 |
NC_000007.12:g.19123064_19123084del | NCBI36 |
NG_008114.1:g.5739_5759del | |
NG_008114.2:g.5739_5759del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000242261.6:c.388_408del MANE Select | ENSP00000242261.5:p.Ala130_Pro136del | |
ENST00000242261.5:c.388_408del | ENSP00000242261.5:p.Ala130_Pro136del | |
ENST00000354571.5:c.185_205del | ||
NM_000474.3:c.388_408del | NP_000465.1:p.Ala130_Pro136del | |
XM_011515496.1:c.388_408del | XP_011513798.1:p.Ala130_Pro136del | |
NR_149001.1:n.739_759del | ||
NM_000474.4:c.388_408del MANE Select | NP_000465.1:p.Ala130_Pro136del | |
NR_149001.2:n.703_723del |