HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848374del , CM000681.2:g.40848374del | GRCh38 |
NC_000019.9:g.41354279del , CM000681.1:g.41354279del | GRCh37 |
NC_000019.8:g.46046119del | NCBI36 |
NG_008377.1:g.7075del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.500del MANE Select | ENSP00000301141.4:p.Asn167IlefsTer8 | |
ENST00000301141.9:c.500del | ENSP00000301141.4:p.Asn167IlefsTer8 | |
ENST00000596719.5:n.351del | ||
ENST00000600495.1:c.*312del | ENSP00000472905.1:n.*312del | |
ENST00000601627.1:c.120-43617del | ||
ENST00000610301.1:c.500del | ENSP00000477899.1:p.Asn167IlefsTer8 | |
NM_000762.5:c.500del | NP_000753.3:p.Asn167IlefsTer8 | |
NM_000762.6:c.500del MANE Select | NP_000753.3:p.Asn167IlefsTer8 |