HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20189451_20189453del , CM000675.2:g.20189451_20189453del | GRCh38 |
NC_000013.10:g.20763590_20763592del , CM000675.1:g.20763590_20763592del | GRCh37 |
NC_000013.9:g.19661590_19661592del | NCBI36 |
NG_008358.1:g.8524_8526del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382844.2:c.130_132del | ENSP00000372295.1:p.Trp44del | |
ENST00000382848.5:c.130_132del MANE Select | ENSP00000372299.4:p.Trp44del | |
ENST00000382844.1:c.130_132del | ENSP00000372295.1:p.Trp44del | |
ENST00000382848.4:c.130_132del | ENSP00000372299.4:p.Trp44del | |
NM_004004.5:c.130_132del | NP_003995.2:p.Trp44del | |
XM_011535049.1:c.130_132del | XP_011533351.1:p.Trp44del | |
XM_011535049.2:c.130_132del | XP_011533351.1:p.Trp44del | |
NM_004004.6:c.130_132del MANE Select | NP_003995.2:p.Trp44del |