HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173520_173530del , CM000678.2:g.173520_173530del | GRCh38 |
NC_000016.9:g.223519_223529del , CM000678.1:g.223519_223529del | GRCh37 |
NC_000016.8:g.163519_163529del | NCBI36 |
NG_000006.1:g.34383_34393del | |
NG_059186.1:g.1870_1880del | |
NG_059271.1:g.5674_5684del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.349_359del MANE Select | ENSP00000251595.6:p.Glu117CysfsTer? | |
ENST00000251595.10:c.349_359del | ENSP00000251595.6:p.Glu117CysfsTer? | |
ENST00000397806.1:c.253_263del | ENSP00000380908.1:p.Glu85CysfsTer? | |
ENST00000482565.1:n.485_495del | ||
NM_000517.4:c.349_359del | NP_000508.1:p.Glu117CysfsTer? | |
NM_000517.6:c.349_359del MANE Select | NP_000508.1:p.Glu117CysfsTer? |