HGVS | Genome Assembly |
---|---|
NC_000004.12:g.186085472_186085473insCCAC , CM000666.2:g.186085472_186085473insCCAC | GRCh38 |
NC_000004.11:g.187006626_187006627insCCAC , CM000666.1:g.187006626_187006627insCCAC | GRCh37 |
NC_000004.10:g.187243620_187243621insCCAC | NCBI36 |
NG_007278.1:g.21318_21319insCCAC , LRG_117:g.21318_21319insCCAC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698352.1:c.*2866_*2867insCCAC | ENSP00000513675.1:n.*2866_*2867insCCAC | |
ENST00000698353.1:n.3189_3190insCCAC | ||
ENST00000698354.1:c.*599_*600insCCAC | ENSP00000513676.1:n.*599_*600insCCAC | |
ENST00000296795.8:c.*599_*600insCCAC MANE Select | ENSP00000296795.3:n.*599_*600insCCAC | |
ENST00000296795.7:c.*599_*600insCCAC | ENSP00000296795.2:n.*599_*600insCCAC | |
NM_003265.3:c.*599_*600insCCAC MANE Select | NP_003256.1:n.*599_*600insCCAC |