HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116832955_116832956insAA , CM000673.2:g.116832955_116832956insAA | GRCh38 |
NC_000011.9:g.116703671_116703672insAA , CM000673.1:g.116703671_116703672insAA | GRCh37 |
NC_000011.8:g.116208881_116208882insAA | NCBI36 |
NG_008949.1:g.8048_8049insAA |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.*71_*72insAA MANE Select | ENSP00000227667.2:n.*71_*72insAA | |
ENST00000227667.7:c.*71_*72insAA | ENSP00000227667.2:n.*71_*72insAA | |
ENST00000375345.3:c.*71_*72insAA | ENSP00000364494.1:n.*71_*72insAA | |
ENST00000630701.1:c.425_426insAA | ENSP00000486182.1:n.425_426insAA | |
NM_000040.1:c.*71_*72insAA | NP_000031.1:n.*71_*72insAA | |
NM_000040.2:c.*71_*72insAA | NP_000031.1:n.*71_*72insAA | |
NM_000040.3:c.*71_*72insAA MANE Select | NP_000031.1:n.*71_*72insAA |