HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240870701_240870703del , CM000664.2:g.240870701_240870703del | GRCh38 |
NC_000002.11:g.241810118_241810120del , CM000664.1:g.241810118_241810120del | GRCh37 |
NC_000002.10:g.241458791_241458793del | NCBI36 |
NG_008005.1:g.6957_6959del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.416_418del MANE Select | ENSP00000302620.3:p.Val139del | |
ENST00000307503.3:c.416_418del | ENSP00000302620.3:p.Val139del | |
ENST00000472436.1:n.436_438del | ||
NM_000030.2:c.416_418del | NP_000021.1:p.Val139del | |
NM_000030.3:c.416_418del MANE Select | NP_000021.1:p.Val139del |