HGVS | Genome Assembly |
---|---|
NC_000003.12:g.147413283_147413285dup , CM000665.2:g.147413283_147413285dup | GRCh38 |
NC_000003.11:g.147131070_147131072dup , CM000665.1:g.147131070_147131072dup | GRCh37 |
NC_000003.10:g.148613760_148613762dup | NCBI36 |
NG_015886.1:g.8890_8892dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000282928.5:c.1147-71_1147-69dup MANE Select | ENSP00000282928.4:n.1147-71_1147-69dup | |
ENST00000282928.4:c.1147-71_1147-69dup | ENSP00000282928.4:n.1147-71_1147-69dup | |
ENST00000472523.1:n.521+19341_521+19343dup | ||
ENST00000488404.5:c.213-71_213-69dup | ||
NM_003412.3:c.1147-71_1147-69dup | NP_003403.2:n.1147-71_1147-69dup | |
NM_003412.4:c.1147-71_1147-69dup MANE Select | NP_003403.2:n.1147-71_1147-69dup |