HGVS | Genome Assembly |
---|---|
NC_000002.12:g.47377059del , CM000664.2:g.47377059del | GRCh38 |
NC_000002.11:g.47604198del , CM000664.1:g.47604198del | GRCh37 |
NC_000002.10:g.47457702del | NCBI36 |
NG_012352.2:g.36897del , LRG_215:g.36897del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263735.9:c.537del MANE Select | ENSP00000263735.4:p.Lys179AsnfsTer? | |
ENST00000263735.8:c.537del | ENSP00000263735.4:p.Lys179AsnfsTer? | |
ENST00000405271.5:c.621del | ENSP00000385476.1:p.Lys207AsnfsTer? | |
ENST00000456133.5:c.621del | ENSP00000410675.1:p.Lys207AsnfsTer? | |
ENST00000490733.1:n.386del | ||
NM_002354.2:c.537del , LRG_215t1:c.537del | NP_002345.2:p.Lys179AsnfsTer? | |
NM_002354.3:c.537del MANE Select | NP_002345.2:p.Lys179AsnfsTer? |