HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137567851del , CM000685.2:g.137567851del | GRCh38 |
NC_000023.10:g.136650010del , CM000685.1:g.136650010del | GRCh37 |
NC_000023.9:g.136477676del | NCBI36 |
NG_008115.1:g.6665del | |
NG_008115.2:g.6725del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.1060+100del MANE Select | ENSP00000287538.5:n.1060+100del | |
ENST00000287538.9:c.1060+100del | ENSP00000287538.5:n.1060+100del | |
ENST00000370606.3:c.1060+100del | ENSP00000359638.3:n.1060+100del | |
NM_003413.3:c.1060+100del | NP_003404.1:n.1060+100del | |
NM_001330661.1:c.1060+100del | NP_001317590.1:n.1060+100del | |
NM_003413.4:c.1060+100del MANE Select | NP_003404.1:n.1060+100del |