HGVS | Genome Assembly |
---|---|
NC_000012.12:g.110911089_110911093del , CM000674.2:g.110911089_110911093del | GRCh38 |
NC_000012.11:g.111348893_111348897del , CM000674.1:g.111348893_111348897del | GRCh37 |
NC_000012.10:g.109833276_109833280del | NCBI36 |
NG_007554.1:g.14491_14495del , LRG_393:g.14491_14495del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000228841.15:c.491_495del MANE Select | ENSP00000228841.8:p.Glu164GlyfsTer? | |
ENST00000663220.1:c.434_438del | ENSP00000499568.1:p.Glu145GlyfsTer? | |
ENST00000228841.12:c.491_495del | ENSP00000228841.7:p.Glu164GlyfsTer? | |
ENST00000548438.1:c.449_453del | ENSP00000447154.1:p.Glu150GlyfsTer? | |
NM_000432.3:c.491_495del , LRG_393t1:c.491_495del | NP_000423.2:p.Glu164GlyfsTer? | |
NM_000432.4:c.491_495del MANE Select | NP_000423.2:p.Glu164GlyfsTer? |