Canonical Allele Identifier: CA2508330245
Gene: STING1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139480773_139480781del , CM000667.2:g.139480773_139480781del GRCh38
NC_000005.9:g.138860358_138860366del , CM000667.1:g.138860358_138860366del GRCh37
NC_000005.8:g.138840542_138840550del NCBI36
NG_034249.1:g.7010_7018del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330794.9:c.520+9_520+17del MANE Select ENSP00000331288.4:n.520+9_520+17del
ENST00000502362.2:n.1295+9_1295+17del
ENST00000510817.2:c.520+9_520+17del ENSP00000427455.2:n.520+9_520+17del
ENST00000511886.6:n.1462+9_1462+17del
ENST00000512606.6:n.756+9_756+17del
ENST00000514119.6:n.739+9_739+17del
ENST00000650883.1:c.163+9_163+17del ENSP00000499142.1:n.163+9_163+17del
ENST00000651565.1:c.163+9_163+17del ENSP00000498768.1:n.163+9_163+17del
ENST00000651699.1:c.520+9_520+17del ENSP00000499166.1:n.520+9_520+17del
ENST00000652110.1:c.520+9_520+17del ENSP00000498513.1:n.520+9_520+17del
ENST00000652271.1:c.520+9_520+17del ENSP00000498596.1:n.520+9_520+17del
ENST00000652543.1:c.163+9_163+17del ENSP00000498683.1:n.163+9_163+17del
ENST00000330794.8:c.520+9_520+17del ENSP00000331288.4:n.520+9_520+17del
ENST00000502825.1:n.298+9_298+17del
ENST00000503287.5:n.412+9_412+17del
ENST00000503838.1:n.560+9_560+17del
ENST00000507297.5:n.1157+9_1157+17del
ENST00000509573.5:n.319+9_319+17del
ENST00000510817.1:c.520+9_520+17del ENSP00000427455.1:n.520+9_520+17del
ENST00000511850.1:n.742+9_742+17del
ENST00000511886.5:n.526+9_526+17del
ENST00000512606.5:n.445+9_445+17del
ENST00000514119.5:n.957+9_957+17del
ENST00000515507.5:n.566+9_566+17del
NM_001301738.1:c.520+9_520+17del NP_001288667.1:n.520+9_520+17del
NM_198282.3:c.520+9_520+17del NP_938023.1:n.520+9_520+17del
XM_005268445.2:c.520+9_520+17del XP_005268502.1:n.520+9_520+17del
XM_011537639.1:c.520+9_520+17del XP_011535941.1:n.520+9_520+17del
XM_011537640.1:c.163+9_163+17del XP_011535942.1:n.163+9_163+17del
XM_005268445.4:c.520+9_520+17del XP_005268502.1:n.520+9_520+17del
XM_011537639.3:c.520+9_520+17del XP_011535941.1:n.520+9_520+17del
XM_011537640.2:c.163+9_163+17del XP_011535942.1:n.163+9_163+17del
NM_001301738.2:c.520+9_520+17del NP_001288667.1:n.520+9_520+17del
NM_001367258.1:c.163+9_163+17del NP_001354187.1:n.163+9_163+17del
NM_198282.4:c.520+9_520+17del MANE Select NP_938023.1:n.520+9_520+17del