Canonical Allele Identifier: CA2573052437

Gene: STING1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139481228del , CM000667.2:g.139481228del	GRCh38
NC_000005.9:g.138860813del , CM000667.1:g.138860813del	GRCh37
NC_000005.8:g.138840997del	NCBI36
NG_034249.1:g.6565del

Transcript Alleles

HGVS	Amino-acid Change
NM_198282.4:c.344del MANE Select	NP_938023.1:p.Pro115ArgfsTer16
ENST00000330794.9:c.344del MANE Select	ENSP00000331288.4:p.Pro115ArgfsTer16
NM_001301738.1:c.344del	NP_001288667.1:p.Pro115ArgfsTer16
NM_001301738.2:c.344del	NP_001288667.1:p.Pro115ArgfsTer16
NM_001367258.1:c.-14del	NP_001354187.1:n.-14del
NM_198282.3:c.344del	NP_938023.1:p.Pro115ArgfsTer16
ENST00000330794.8:c.344del	ENSP00000331288.4:p.Pro115ArgfsTer16
ENST00000502362.2:n.1119del
ENST00000503287.5:n.236del
ENST00000503838.1:n.124del
ENST00000507297.5:n.721del
ENST00000509573.5:n.143del
ENST00000510817.1:c.344del	ENSP00000427455.1:p.Pro115ArgfsTer16
ENST00000510817.2:c.344del	ENSP00000427455.2:p.Pro115ArgfsTer16
ENST00000511850.1:n.566del
ENST00000511886.5:n.350del
ENST00000511886.6:n.1286del
ENST00000512606.5:n.269del
ENST00000512606.6:n.580del
ENST00000514119.5:n.781del
ENST00000514119.6:n.563del
ENST00000515507.5:n.445del
ENST00000650883.1:c.-14del	ENSP00000499142.1:n.-14del
ENST00000651565.1:c.-14del	ENSP00000498768.1:n.-14del
ENST00000651699.1:c.344del	ENSP00000499166.1:p.Pro115ArgfsTer16
ENST00000652110.1:c.344del	ENSP00000498513.1:p.Pro115ArgfsTer16
ENST00000652271.1:c.344del	ENSP00000498596.1:p.Pro115ArgfsTer16
ENST00000652543.1:c.-14del	ENSP00000498683.1:n.-14del
XM_005268445.2:c.344del	XP_005268502.1:p.Pro115ArgfsTer16
XM_005268445.4:c.344del	XP_005268502.1:p.Pro115ArgfsTer16
XM_011537639.1:c.344del	XP_011535941.1:p.Pro115ArgfsTer16
XM_011537639.3:c.344del	XP_011535941.1:p.Pro115ArgfsTer16
XM_011537640.1:c.-14del	XP_011535942.1:n.-14del
XM_011537640.2:c.-14del	XP_011535942.1:n.-14del