HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6018522_6018536del , CM000674.2:g.6018522_6018536del | GRCh38 |
NC_000012.11:g.6127688_6127702del , CM000674.1:g.6127688_6127702del | GRCh37 |
NC_000012.10:g.5997949_5997963del | NCBI36 |
NG_009072.1:g.111136_111150del | |
NG_009072.2:g.111136_111150del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261405.10:c.4883_4897del MANE Select | ENSP00000261405.5:p.Ile1628_Pro1632del | |
ENST00000261405.9:c.4883_4897del | ENSP00000261405.5:p.Ile1628_Pro1632del | |
ENST00000538635.5:n.421-24601_421-24587del | ||
NM_000552.3:c.4883_4897del | NP_000543.2:p.Ile1628_Pro1632del | |
NM_000552.4:c.4883_4897del | NP_000543.2:p.Ile1628_Pro1632del | |
NM_000552.5:c.4883_4897del MANE Select | NP_000543.3:p.Ile1628_Pro1632del |