HGVS | Genome Assembly |
---|---|
NC_000005.10:g.178994869_178994870insCCAC , CM000667.2:g.178994869_178994870insCCAC | GRCh38 |
NC_000005.9:g.178421870_178421871insCCAC , CM000667.1:g.178421870_178421871insCCAC | GRCh37 |
NC_000005.8:g.178354476_178354477insCCAC | NCBI36 |
NG_008105.1:g.5254_5255insGTGG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000517717.3:c.75_76insGTGG MANE Select | ENSP00000430767.1:p.Leu26ValfsTer? | |
ENST00000650031.1:c.75_76insGTGG | ENSP00000497110.1:p.Leu26ValfsTer? | |
ENST00000231188.9:c.75_76insGTGG | ENSP00000231188.5:p.Leu26ValfsTer? | |
ENST00000517717.1:c.75_76insGTGG | ENSP00000430767.1:p.Leu26ValfsTer? | |
NM_000843.3:c.75_76insGTGG | NP_000834.2:p.Leu26ValfsTer? | |
NM_000843.4:c.75_76insGTGG MANE Select | NP_000834.2:p.Leu26ValfsTer? |