HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129814070_129814073del , CM000671.2:g.129814070_129814073del | GRCh38 |
NC_000009.11:g.132576349_132576352del , CM000671.1:g.132576349_132576352del | GRCh37 |
NC_000009.10:g.131616170_131616173del | NCBI36 |
NG_008049.1:g.15090_15093del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000351698.5:c.898_901del MANE Select | ENSP00000345719.4:p.Val300LeufsTer4 | |
ENST00000651202.1:c.*166_*169del | ENSP00000498222.1:n.*166_*169del | |
ENST00000351698.4:c.898_901del | ENSP00000345719.4:p.Val300LeufsTer4 | |
ENST00000474192.1:n.482_485del | ||
NM_000113.2:c.898_901del | NP_000104.1:p.Val300LeufsTer4 | |
XR_929731.1:n.1225_1228del | ||
XR_929731.3:n.1093_1096del | ||
NM_000113.3:c.898_901del MANE Select | NP_000104.1:p.Val300LeufsTer4 |