HGVS | Genome Assembly |
---|---|
NC_000011.10:g.5225498_5225504del , CM000673.2:g.5225498_5225504del | GRCh38 |
NC_000011.9:g.5246728_5246734del , CM000673.1:g.5246728_5246734del | GRCh37 |
NC_000011.8:g.5203304_5203310del | NCBI36 |
NG_000007.3:g.72116_72122del | |
NG_059281.1:g.6572_6578del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647020.1:c.*98_*104del | ENSP00000494175.1:n.*98_*104del | |
ENST00000335295.4:c.*98_*104del MANE Select | ENSP00000333994.3:n.*98_*104del | |
ENST00000633227.1:c.*358_*364del | ENSP00000488004.1:n.*358_*364del | |
NM_000518.4:c.*98_*104del | NP_000509.1:n.*98_*104del | |
NM_000518.5:c.*98_*104del MANE Select | NP_000509.1:n.*98_*104del |