HGVS | Genome Assembly |
---|---|
NC_000019.10:g.2251837_2251838insGGGCCGCCCTGGCA , CM000681.2:g.2251837_2251838insGGGCCGCCCTGGCA | GRCh38 |
NC_000019.9:g.2251836_2251837insGGGCCGCCCTGGCA , CM000681.1:g.2251836_2251837insGGGCCGCCCTGGCA | GRCh37 |
NC_000019.8:g.2202836_2202837insGGGCCGCCCTGGCA | NCBI36 |
NG_012190.1:g.7724_7725insGGGCCGCCCTGGCA | |
NG_032853.1:g.9586_9587insTGCCAGGGCGGCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221496.5:c.1563_1564insGGGCCGCCCTGGCA MANE Select | ENSP00000221496.2:p.Arg522GlyfsTer? | |
ENST00000221496.4:c.1563_1564insGGGCCGCCCTGGCA | ENSP00000221496.2:p.Arg522GlyfsTer? | |
NM_000479.3:c.1563_1564insGGGCCGCCCTGGCA | NP_000470.2:p.Arg522GlyfsTer? | |
NM_000479.4:c.1563_1564insGGGCCGCCCTGGCA | NP_000470.2:p.Arg522GlyfsTer? | |
NM_000479.5:c.1563_1564insGGGCCGCCCTGGCA MANE Select | NP_000470.3:p.Arg522GlyfsTer? |