HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45984457_45984459del , CM000683.2:g.45984457_45984459del | GRCh38 |
NC_000021.8:g.47404371_47404373del , CM000683.1:g.47404371_47404373del | GRCh37 |
NC_000021.7:g.46228799_46228801del | NCBI36 |
NG_008674.1:g.7709_7711del , LRG_475:g.7709_7711del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.416_418del MANE Select | ENSP00000355180.3:p.Gln139del | |
ENST00000361866.7:c.416_418del | ENSP00000355180.3:p.Gln139del | |
ENST00000612273.1:c.416_418del | ENSP00000483630.1:p.Gln139del | |
NM_001848.2:c.416_418del , LRG_475t1:c.416_418del | NP_001839.2:p.Gln139del | |
NM_001848.3:c.416_418del MANE Select | NP_001839.2:p.Gln139del |