HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128312560del , CM000667.2:g.128312560del | GRCh38 |
NC_000005.9:g.127648252del , CM000667.1:g.127648252del | GRCh37 |
NC_000005.8:g.127676151del | NCBI36 |
NG_008750.1:g.230484del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703783.1:n.1663+74del | ||
ENST00000703785.1:n.1583-607del | ||
ENST00000262464.9:c.4879+74del MANE Select | ENSP00000262464.4:n.4879+74del | |
ENST00000262464.8:c.4879+74del | ENSP00000262464.4:n.4879+74del | |
ENST00000508053.5:c.4879+74del | ENSP00000424571.1:n.4879+74del | |
ENST00000619499.4:c.4876+74del | ENSP00000482132.1:n.4876+74del | |
NM_001999.3:c.4879+74del | NP_001990.2:n.4879+74del | |
XM_017009228.2:c.4726+74del | XP_016864717.1:n.4726+74del | |
NM_001999.4:c.4879+74del MANE Select | NP_001990.2:n.4879+74del |