HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49636364_49636365del , CM000681.2:g.49636364_49636365del | GRCh38 |
NC_000019.9:g.50139621_50139622del , CM000681.1:g.50139621_50139622del | GRCh37 |
NC_000019.8:g.54831433_54831434del | NCBI36 |
NG_042222.1:g.8783_8784del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246792.4:c.453+258_453+259del MANE Select | ENSP00000246792.2:n.453+258_453+259del | |
ENST00000246792.3:c.453+258_453+259del | ENSP00000246792.2:n.453+258_453+259del | |
ENST00000601532.1:n.593+258_593+259del | ||
NM_006270.3:c.453+258_453+259del | NP_006261.1:n.453+258_453+259del | |
NM_006270.4:c.453+258_453+259del | NP_006261.1:n.453+258_453+259del | |
NM_006270.5:c.453+258_453+259del MANE Select | NP_006261.1:n.453+258_453+259del |