Canonical Allele Identifier: CA117033
Gene: STIM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4711
ClinVar RCV Id: RCV000004976
dbSNP Id: rs397515357

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4023983dup , CM000673.2:g.4023983dup GRCh38
NC_000011.9:g.4045213dup , CM000673.1:g.4045213dup GRCh37
NC_000011.8:g.4001789dup NCBI36
NG_016277.1:g.173281dup , LRG_164:g.173281dup

Transcript Alleles

HGVS Amino-acid change
ENST00000525403.6:c.159dup ENSP00000432210.2:p.Glu54ArgfsTer9
ENST00000533343.2:n.980dup
ENST00000698909.1:n.428dup
ENST00000698910.1:c.-109dup ENSP00000514024.1:n.-109dup
ENST00000698911.1:c.159dup ENSP00000514025.1:p.Glu54ArgfsTer9
ENST00000698912.1:c.159dup ENSP00000514026.1:p.Glu54ArgfsTer9
ENST00000698913.1:c.159dup ENSP00000514027.1:p.Glu54ArgfsTer9
ENST00000698914.1:c.381dup ENSP00000514028.1:p.Glu128ArgfsTer9
ENST00000698915.1:c.381dup ENSP00000514029.1:p.Glu128ArgfsTer9
ENST00000698916.1:c.381dup ENSP00000514030.1:p.Glu128ArgfsTer9
ENST00000698918.1:c.*82dup ENSP00000514031.1:n.*82dup
ENST00000698919.1:c.381dup ENSP00000514032.1:p.Glu128ArgfsTer9
ENST00000526596.2:c.381dup MANE Select ENSP00000433266.2:p.Glu128ArgfsTer9
ENST00000300737.8:c.381dup ENSP00000300737.4:p.Glu128ArgfsTer9
ENST00000524822.5:c.159dup ENSP00000434200.1:p.Glu54ArgfsTer?
ENST00000525055.5:c.159dup ENSP00000431191.1:p.Glu54ArgfsTer9
ENST00000525403.5:c.159dup ENSP00000432210.1:p.Glu54ArgfsTer9
ENST00000526771.5:n.186dup
ENST00000527484.5:n.197dup
ENST00000527651.5:c.381dup ENSP00000436208.1:p.Glu128ArgfsTer9
ENST00000528656.5:c.159dup ENSP00000432378.1:p.Glu54ArgfsTer9
ENST00000530554.5:c.159dup ENSP00000431878.1:p.Glu54ArgfsTer9
ENST00000532610.5:c.159dup ENSP00000434848.1:p.Glu54ArgfsTer9
ENST00000532919.5:c.159dup ENSP00000433949.1:p.Glu54ArgfsTer9
ENST00000532990.1:c.159dup ENSP00000432383.1:p.Glu54ArgfsTer9
ENST00000616714.4:c.381dup ENSP00000478059.1:p.Glu128ArgfsTer9
NM_001277961.1:c.381dup NP_001264890.1:p.Glu128ArgfsTer9
NM_001277962.1:c.381dup NP_001264891.1:p.Glu128ArgfsTer9
NM_003156.3:c.381dup , LRG_164t1:c.381dup NP_003147.2:p.Glu128ArgfsTer9
NM_001277962.2:c.381dup NP_001264891.1:p.Glu128ArgfsTer9
NM_001277961.3:c.381dup NP_001264890.1:p.Glu128ArgfsTer9
NM_001382566.1:c.159dup NP_001369495.1:p.Glu54ArgfsTer9
NM_001382567.1:c.381dup MANE Select NP_001369496.1:p.Glu128ArgfsTer9
NM_001382568.1:c.381dup NP_001369497.1:p.Glu128ArgfsTer9
NM_001382569.1:c.246dup NP_001369498.1:p.Glu83ArgfsTer9
NM_001382570.1:c.381dup NP_001369499.1:p.Glu128ArgfsTer6
NM_001382571.1:c.13dup NP_001369500.1:p.Arg5LysfsTer?
NM_001382572.1:c.381dup NP_001369501.1:p.Glu128ArgfsTer9
NM_001382573.1:c.159dup NP_001369502.1:p.Glu54ArgfsTer9
NM_001382574.1:c.159dup NP_001369503.1:p.Glu54ArgfsTer9
NM_001382575.1:c.159dup NP_001369504.1:p.Glu54ArgfsTer9
NM_001382576.1:c.159dup NP_001369505.1:p.Glu54ArgfsTer9
NM_001382577.1:c.159dup NP_001369506.1:p.Glu54ArgfsTer9
NM_001382578.1:c.159dup NP_001369507.1:p.Glu54ArgfsTer9
NM_001382579.1:c.159dup NP_001369508.1:p.Glu54ArgfsTer9
NM_001382580.1:c.-109dup NP_001369509.1:n.-109dup
NM_001382581.1:c.-109dup NP_001369510.1:n.-109dup
NM_003156.4:c.381dup NP_003147.2:p.Glu128ArgfsTer9
NR_168436.1:n.988dup
NR_168437.1:n.988dup
NR_168438.1:n.988dup