HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255400_133255401dup , CM000671.2:g.133255400_133255401dup | GRCh38 |
NC_000009.11:g.136130787_136130788dup , CM000671.1:g.136130787_136130788dup | GRCh37 |
NC_000009.10:g.135120608_135120609dup | NCBI36 |
NG_006669.1:g.22274_22275dup | |
NG_006669.2:g.24822_24823dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1366_1367dup | ||
ENST00000647353.1:n.54-4242_54-4241dup | ||
ENST00000679909.1:c.28+19768_28+19769dup | ENSP00000506089.1:n.28+19768_28+19769dup | |
ENST00000453660.3:n.1348_1349dup | ||
ENST00000611156.4:c.*272_*273dup | ENSP00000483265.1:n.*272_*273dup | |
NM_020469.2:c.*272_*273dup | NP_065202.2:n.*272_*273dup | |
NM_020469.3:c.*272_*273dup | NP_065202.2:n.*272_*273dup |