Canonical Allele Identifier: CA2739275105

Gene: STING1

Linked Data

• ClinVar Variation Id: 2833035
• ClinVar RCV Id: RCV003749965

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139480778_139480779del , CM000667.2:g.139480778_139480779del	GRCh38
NC_000005.9:g.138860363_138860364del , CM000667.1:g.138860363_138860364del	GRCh37
NC_000005.8:g.138840547_138840548del	NCBI36
NG_034249.1:g.7016_7017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330794.9:c.520+15_520+16del MANE Select	ENSP00000331288.4:n.520+15_520+16del
ENST00000502362.2:n.1295+15_1295+16del
ENST00000510817.2:c.520+15_520+16del	ENSP00000427455.2:n.520+15_520+16del
ENST00000511886.6:n.1462+15_1462+16del
ENST00000512606.6:n.756+15_756+16del
ENST00000514119.6:n.739+15_739+16del
ENST00000650883.1:c.163+15_163+16del	ENSP00000499142.1:n.163+15_163+16del
ENST00000651565.1:c.163+15_163+16del	ENSP00000498768.1:n.163+15_163+16del
ENST00000651699.1:c.520+15_520+16del	ENSP00000499166.1:n.520+15_520+16del
ENST00000652110.1:c.520+15_520+16del	ENSP00000498513.1:n.520+15_520+16del
ENST00000652271.1:c.520+15_520+16del	ENSP00000498596.1:n.520+15_520+16del
ENST00000652543.1:c.163+15_163+16del	ENSP00000498683.1:n.163+15_163+16del
ENST00000330794.8:c.520+15_520+16del	ENSP00000331288.4:n.520+15_520+16del
ENST00000502825.1:n.298+15_298+16del
ENST00000503287.5:n.412+15_412+16del
ENST00000503838.1:n.560+15_560+16del
ENST00000507297.5:n.1157+15_1157+16del
ENST00000509573.5:n.319+15_319+16del
ENST00000510817.1:c.520+15_520+16del	ENSP00000427455.1:n.520+15_520+16del
ENST00000511850.1:n.742+15_742+16del
ENST00000511886.5:n.526+15_526+16del
ENST00000512606.5:n.445+15_445+16del
ENST00000514119.5:n.957+15_957+16del
ENST00000515507.5:n.566+15_566+16del
NM_001301738.1:c.520+15_520+16del	NP_001288667.1:n.520+15_520+16del
NM_198282.3:c.520+15_520+16del	NP_938023.1:n.520+15_520+16del
XM_005268445.2:c.520+15_520+16del	XP_005268502.1:n.520+15_520+16del
XM_011537639.1:c.520+15_520+16del	XP_011535941.1:n.520+15_520+16del
XM_011537640.1:c.163+15_163+16del	XP_011535942.1:n.163+15_163+16del
XM_005268445.4:c.520+15_520+16del	XP_005268502.1:n.520+15_520+16del
XM_011537639.3:c.520+15_520+16del	XP_011535941.1:n.520+15_520+16del
XM_011537640.2:c.163+15_163+16del	XP_011535942.1:n.163+15_163+16del
NM_001301738.2:c.520+15_520+16del	NP_001288667.1:n.520+15_520+16del
NM_001367258.1:c.163+15_163+16del	NP_001354187.1:n.163+15_163+16del
NM_198282.4:c.520+15_520+16del MANE Select	NP_938023.1:n.520+15_520+16del