HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940191_67940192insGGGGGGGG , CM000678.2:g.67940191_67940192insGGGGGGGG | GRCh38 |
NC_000016.9:g.67974094_67974095insGGGGGGGG , CM000678.1:g.67974094_67974095insGGGGGGGG | GRCh37 |
NC_000016.8:g.66531595_66531596insGGGGGGGG | NCBI36 |
NG_009778.1:g.8925_8926insCCCCCCCC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.1039_1040insCCCCCCCC MANE Select | ENSP00000264005.5:p.Arg347ProfsTer? | |
ENST00000264005.9:c.1039_1040insCCCCCCCC | ENSP00000264005.5:p.Arg347ProfsTer? | |
ENST00000570369.5:c.156-114_156-113insCCCCCCCC | ||
ENST00000573538.5:c.777_778insCCCCCCCC | ENSP00000463220.1:n.777_778insCCCCCCCC | |
NM_000229.1:c.1039_1040insCCCCCCCC | NP_000220.1:p.Arg347ProfsTer? | |
NM_000229.2:c.1039_1040insCCCCCCCC MANE Select | NP_000220.1:p.Arg347ProfsTer? |