HGVS | Genome Assembly |
---|---|
NC_000023.11:g.108084769_108084770del , CM000685.2:g.108084769_108084770del | GRCh38 |
NC_000023.10:g.107327999_107328000del , CM000685.1:g.107327999_107328000del | GRCh37 |
NC_000023.9:g.107214655_107214656del | NCBI36 |
NG_012521.1:g.11849_11850del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000217958.8:c.*204_*205del MANE Select | ENSP00000217958.3:n.*204_*205del | |
ENST00000217958.7:c.*204_*205del | ENSP00000217958.3:n.*204_*205del | |
ENST00000372296.5:c.*350_*351del | ENSP00000361370.1:n.*350_*351del | |
NM_002814.3:c.*204_*205del | NP_002805.1:n.*204_*205del | |
NM_170750.2:c.*350_*351del | NP_736606.1:n.*350_*351del | |
NM_002814.4:c.*204_*205del MANE Select | NP_002805.1:n.*204_*205del | |
NM_170750.3:c.*350_*351del | NP_736606.1:n.*350_*351del |