HGVS | Genome Assembly |
---|---|
NC_000004.12:g.52037985_52037986dup , CM000666.2:g.52037985_52037986dup | GRCh38 |
NC_000004.11:g.52904151_52904152dup , CM000666.1:g.52904151_52904152dup | GRCh37 |
NC_000004.10:g.52598908_52598909dup | NCBI36 |
NG_008891.1:g.5335_5336dup , LRG_204:g.5335_5336dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381431.10:c.33+242_33+243dup MANE Select | ENSP00000370839.6:n.33+242_33+243dup | |
ENST00000381431.9:c.33+242_33+243dup | ENSP00000370839.5:n.33+242_33+243dup | |
ENST00000506357.5:c.19+242_19+243dup | ||
NM_000232.4:c.33+242_33+243dup , LRG_204t1:c.33+242_33+243dup | NP_000223.1:n.33+242_33+243dup | |
XM_011534403.1:c.33+242_33+243dup | XP_011532705.1:n.33+242_33+243dup | |
NM_000232.5:c.33+242_33+243dup MANE Select | NP_000223.1:n.33+242_33+243dup |