HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129814013del , CM000671.2:g.129814013del | GRCh38 |
NC_000009.11:g.132576292del , CM000671.1:g.132576292del | GRCh37 |
NC_000009.10:g.131616113del | NCBI36 |
NG_008049.1:g.15153del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.961del MANE Select | ENSP00000345719.4:p.Thr321ArgfsTer6 | |
ENST00000651202.1:c.*229del | ENSP00000498222.1:n.*229del | |
ENST00000351698.4:c.961del | ENSP00000345719.4:p.Thr321ArgfsTer6 | |
ENST00000474192.1:n.545del | ||
NM_000113.2:c.961del | NP_000104.1:p.Thr321ArgfsTer6 | |
XR_929731.3:n.1156del | ||
NM_000113.3:c.961del MANE Select | NP_000104.1:p.Thr321ArgfsTer6 |