HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31271074_31271078del , CM000668.2:g.31271074_31271078del | GRCh38 |
NC_000006.11:g.31238851_31238855del , CM000668.1:g.31238851_31238855del | GRCh37 |
NC_000006.10:g.31346830_31346834del | NCBI36 |
NG_029422.2:g.6055_6059del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000376228.10:c.615_619del MANE Select | ENSP00000365402.5:p.Ala206ThrfsTer13 | |
ENST00000376228.9:c.615_619del | ENSP00000365402.5:p.Ala206ThrfsTer13 | |
ENST00000376237.8:c.*202_*206del | ENSP00000365412.4:n.*202_*206del | |
ENST00000383329.7:c.615_619del | ENSP00000372819.3:p.Ala206ThrfsTer13 | |
ENST00000415537.1:c.613_617del | ||
ENST00000487245.5:n.974_978del | ||
ENST00000495835.1:n.804_808del | ||
NM_002117.5:c.615_619del | NP_002108.4:p.Ala206ThrfsTer13 | |
NM_002117.6:c.615_619del MANE Select | NP_002108.4:p.Ala206ThrfsTer13 |