HGVS | Genome Assembly |
---|---|
NC_000009.12:g.2717758_2717759del , CM000671.2:g.2717758_2717759del | GRCh38 |
NC_000009.11:g.2717758_2717759del , CM000671.1:g.2717758_2717759del | GRCh37 |
NC_000009.10:g.2707758_2707759del | NCBI36 |
NG_012181.1:g.5233_5234del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382082.4:c.19_20del MANE Select | ENSP00000371514.3:p.Arg7GlufsTer15 | |
ENST00000382082.3:c.19_20del | ENSP00000371514.3:p.Arg7GlufsTer15 | |
NM_133497.3:c.19_20del | NP_598004.1:p.Arg7GlufsTer15 | |
XR_929202.1:n.520_521del | ||
XR_929203.1:n.520_521del | ||
NM_133497.4:c.19_20del MANE Select | NP_598004.1:p.Arg7GlufsTer15 |