HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1014050_1014150del , CM000663.2:g.1014050_1014150del | GRCh38 |
NC_000001.10:g.949430_949530del , CM000663.1:g.949430_949530del | GRCh37 |
NC_000001.9:g.939293_939393del | NCBI36 |
NG_033033.1:g.5584_5684del | |
NG_033033.2:g.17913_18013del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000624697.4:c.46_146del | ENSP00000485643.1:p.Ser16GlyfsTer? | |
ENST00000649529.1:c.70_170del MANE Select | ENSP00000496832.1:p.Ser24GlyfsTer? | |
ENST00000379389.4:c.70_170del | ENSP00000368699.4:p.Ser24GlyfsTer? | |
ENST00000624652.1:c.46_146del | ENSP00000485313.1:p.Ser16GlyfsTer? | |
ENST00000624697.3:c.46_146del | ENSP00000485643.1:p.Ser16GlyfsTer? | |
NM_005101.3:c.70_170del | NP_005092.1:p.Ser24GlyfsTer? | |
NM_005101.4:c.70_170del MANE Select | NP_005092.1:p.Ser24GlyfsTer? |