HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48534183del , CM000677.2:g.48534183del | GRCh38 |
NC_000015.9:g.48826380del , CM000677.1:g.48826380del | GRCh37 |
NC_000015.8:g.46613672del | NCBI36 |
NG_008805.2:g.116609del , LRG_778:g.116609del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.762del | ENSP00000453958.2:p.Leu256SerfsTer? | |
ENST00000674301.2:c.762del | ENSP00000501333.2:p.Leu256SerfsTer? | |
ENST00000316623.10:c.762del MANE Select | ENSP00000325527.5:p.Leu256SerfsTer? | |
ENST00000316623.9:c.762del | ENSP00000325527.5:p.Leu256SerfsTer? | |
ENST00000537463.6:c.636+3531del | ENSP00000440294.2:n.636+3531del | |
NM_000138.4:c.762del , LRG_778t1:c.762del | NP_000129.3:p.Leu256SerfsTer? | |
NM_000138.5:c.762del MANE Select | NP_000129.3:p.Leu256SerfsTer? |