HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20189278_20189280del , CM000675.2:g.20189278_20189280del | GRCh38 |
NC_000013.10:g.20763417_20763419del , CM000675.1:g.20763417_20763419del | GRCh37 |
NC_000013.9:g.19661417_19661419del | NCBI36 |
NG_008358.1:g.8702_8704del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382844.2:c.308_310del | ENSP00000372295.1:p.Lys103del | |
ENST00000382848.5:c.308_310del MANE Select | ENSP00000372299.4:p.Lys103del | |
ENST00000382844.1:c.308_310del | ENSP00000372295.1:p.Lys103del | |
ENST00000382848.4:c.308_310del | ENSP00000372299.4:p.Lys103del | |
NM_004004.5:c.308_310del | NP_003995.2:p.Lys103del | |
XM_011535049.1:c.308_310del | XP_011533351.1:p.Lys103del | |
XM_011535049.2:c.308_310del | XP_011533351.1:p.Lys103del | |
NM_004004.6:c.308_310del MANE Select | NP_003995.2:p.Lys103del |