HGVS | Genome Assembly |
---|---|
NC_000014.9:g.102922704_102922705del , CM000676.2:g.102922704_102922705del | GRCh38 |
NC_000014.8:g.103389041_103389042del , CM000676.1:g.103389041_103389042del | GRCh37 |
NC_000014.7:g.102458794_102458795del | NCBI36 |
NG_008276.2:g.5049_5050del , LRG_642:g.5049_5050del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299155.10:c.16_17del MANE Select | ENSP00000299155.6:p.Arg6GlyfsTer? | |
ENST00000299155.9:c.16_17del | ENSP00000299155.5:p.Arg6GlyfsTer? | |
NM_030943.3:c.16_17del , LRG_642t1:c.16_17del | NP_112205.2:p.Arg6GlyfsTer? | |
XM_011537202.1:c.-166_-165del | XP_011535504.1:n.-166_-165del | |
XM_011537202.3:c.-166_-165del | XP_011535504.1:n.-166_-165del | |
XM_024449714.1:c.112_113del | XP_024305482.1:p.Arg38GlyfsTer? | |
NM_030943.4:c.16_17del MANE Select | NP_112205.2:p.Arg6GlyfsTer? |