HGVS | Genome Assembly |
---|---|
NC_000016.10:g.[173510C>G;173511_173522del] , CM000678.2:g.[173510C>G;173511_173522del] | GRCh38 |
NC_000016.9:g.[223509C>G;223510_223521del] , CM000678.1:g.[223509C>G;223510_223521del] | GRCh37 |
NC_000016.8:g.[163509C>G;163510_163521del] | NCBI36 |
NG_000006.1:g.[34373C>G;34374_34385del] | |
NG_059186.1:g.[1860C>G;1861_1872del] | |
NG_059271.1:g.[5664C>G;5665_5676del] |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251595.11:c.[339C>G;340_351del] MANE Select | ENSP00000251595.6:p.[His113Gln;Leu114_Glu117del] | |
ENST00000251595.10:c.[339C>G;340_351del] | ENSP00000251595.6:p.[His113Gln;Leu114_Glu117del] | |
ENST00000397806.1:c.[243C>G;244_255del] | ENSP00000380908.1:p.[His81Gln;Leu82_Glu85del] | |
ENST00000482565.1:n.[475C>G;476_487del] | ||
NM_000517.4:c.[339C>G;340_351del] | NP_000508.1:p.[His113Gln;Leu114_Glu117del] | |
NM_000517.6:c.[339C>G;340_351del] MANE Select | NP_000508.1:p.[His113Gln;Leu114_Glu117del] |