HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52038003_52038009del , CM000666.2:g.52038003_52038009del | GRCh38 |
NC_000004.11:g.52904169_52904175del , CM000666.1:g.52904169_52904175del | GRCh37 |
NC_000004.10:g.52598926_52598932del | NCBI36 |
NG_008891.1:g.5311_5317del , LRG_204:g.5311_5317del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.33+218_33+224del MANE Select | ENSP00000370839.6:n.33+218_33+224del | |
ENST00000381431.9:c.33+218_33+224del | ENSP00000370839.5:n.33+218_33+224del | |
ENST00000506357.5:c.19+218_19+224del | ||
NM_000232.4:c.33+218_33+224del , LRG_204t1:c.33+218_33+224del | NP_000223.1:n.33+218_33+224del | |
XM_011534403.1:c.33+218_33+224del | XP_011532705.1:n.33+218_33+224del | |
NM_000232.5:c.33+218_33+224del MANE Select | NP_000223.1:n.33+218_33+224del |