HGVS | Genome Assembly |
---|---|
NC_000010.11:g.44370369_44370371del , CM000672.2:g.44370369_44370371del | GRCh38 |
NC_000010.10:g.44865817_44865819del , CM000672.1:g.44865817_44865819del | GRCh37 |
NC_000010.9:g.44185823_44185825del | NCBI36 |
NG_016861.1:g.19728_19730del | |
NG_016861.2:g.19728_19730del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374429.6:c.*2958_*2960del | ENSP00000363551.2:n.*2958_*2960del | |
NM_000609.6:c.*2958_*2960del | NP_000600.1:n.*2958_*2960del | |
NM_001277990.1:c.*2518_*2520del | NP_001264919.1:n.*2518_*2520del | |
XR_001747171.1:n.331+8267_331+8269del | ||
XR_001747172.1:n.331+8267_331+8269del | ||
XR_001747173.1:n.331+8267_331+8269del | ||
XR_001747174.1:n.331+8267_331+8269del | ||
NM_000609.7:c.*2958_*2960del | NP_000600.1:n.*2958_*2960del | |
NM_001277990.2:c.*2518_*2520del | NP_001264919.1:n.*2518_*2520del |