HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085343_186085346dup , CM000666.2:g.186085343_186085346dup | GRCh38 |
NC_000004.11:g.187006497_187006500dup , CM000666.1:g.187006497_187006500dup | GRCh37 |
NC_000004.10:g.187243491_187243494dup | NCBI36 |
NG_007278.1:g.21189_21192dup , LRG_117:g.21189_21192dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*2737_*2740dup | ENSP00000513675.1:n.*2737_*2740dup | |
ENST00000698353.1:n.3060_3063dup | ||
ENST00000698354.1:c.*470_*473dup | ENSP00000513676.1:n.*470_*473dup | |
ENST00000296795.8:c.*470_*473dup MANE Select | ENSP00000296795.3:n.*470_*473dup | |
ENST00000296795.7:c.*470_*473dup | ENSP00000296795.2:n.*470_*473dup | |
NM_003265.3:c.*470_*473dup MANE Select | NP_003256.1:n.*470_*473dup |