HGVS | Genome Assembly |
---|---|
NC_000023.11:g.8731971_8731984del , CM000685.2:g.8731971_8731984del | GRCh38 |
NC_000023.10:g.8700012_8700025del , CM000685.1:g.8700012_8700025del | GRCh37 |
NC_000023.9:g.8660012_8660025del | NCBI36 |
NG_007088.1:g.5204_5217del | |
NG_007088.2:g.5204_5217del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262648.8:c.54_67del MANE Select | ENSP00000262648.3:p.Ser19GlyfsTer? | |
ENST00000262648.7:c.54_67del | ENSP00000262648.3:p.Ser19GlyfsTer? | |
ENST00000619786.1:c.54_66del | ||
NM_000216.2:c.54_67del | NP_000207.2:p.Ser19GlyfsTer? | |
XM_005274501.3:c.54_67del | XP_005274558.1:p.Ser19GlyfsTer? | |
NM_000216.3:c.54_67del | NP_000207.2:p.Ser19GlyfsTer? | |
XM_005274501.4:c.54_67del | XP_005274558.1:p.Ser19GlyfsTer? | |
NM_000216.4:c.54_67del MANE Select | NP_000207.2:p.Ser19GlyfsTer? |