Canonical Allele Identifier: CA2590714570

Gene: STIM1

Linked Data

• gnomAD v3: 11-4083111-CTTTA-C
• gnomAD v4: 11-4083111-CTTTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083117_4083120del , CM000673.2:g.4083117_4083120del	GRCh38
NC_000011.9:g.4104347_4104350del , CM000673.1:g.4104347_4104350del	GRCh37
NC_000011.8:g.4060923_4060926del	NCBI36
NG_016277.1:g.232415_232418del , LRG_164:g.232415_232418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.1016+135_1016+138del	ENSP00000432210.2:n.1016+135_1016+138del
ENST00000533343.2:n.1837+135_1837+138del
ENST00000698909.1:n.1950_1953del
ENST00000698910.1:c.749+135_749+138del	ENSP00000514024.1:n.749+135_749+138del
ENST00000698911.1:c.1016+135_1016+138del	ENSP00000514025.1:n.1016+135_1016+138del
ENST00000698912.1:c.1016+135_1016+138del	ENSP00000514026.1:n.1016+135_1016+138del
ENST00000698913.1:c.1016+135_1016+138del	ENSP00000514027.1:n.1016+135_1016+138del
ENST00000698915.1:c.1238+135_1238+138del	ENSP00000514029.1:n.1238+135_1238+138del
ENST00000698916.1:c.1259+135_1259+138del	ENSP00000514030.1:n.1259+135_1259+138del
ENST00000698918.1:c.*939+135_*939+138del	ENSP00000514031.1:n.*939+135_*939+138del
ENST00000698919.1:c.*171+135_*171+138del	ENSP00000514032.1:n.*171+135_*171+138del
ENST00000698920.1:n.538+135_538+138del
ENST00000526596.2:c.1238+135_1238+138del MANE Select	ENSP00000433266.2:n.1238+135_1238+138del
ENST00000300737.8:c.1238+135_1238+138del	ENSP00000300737.4:n.1238+135_1238+138del
ENST00000526596.1:c.430+135_430+138del
ENST00000527651.5:c.1238+135_1238+138del	ENSP00000436208.1:n.1238+135_1238+138del
ENST00000533343.1:n.248+135_248+138del
ENST00000533977.5:c.719+135_719+138del	ENSP00000434767.1:n.719+135_719+138del
ENST00000616714.4:c.1238+135_1238+138del	ENSP00000478059.1:n.1238+135_1238+138del
NM_001277961.1:c.1238+135_1238+138del	NP_001264890.1:n.1238+135_1238+138del
NM_001277962.1:c.1238+135_1238+138del	NP_001264891.1:n.1238+135_1238+138del
NM_003156.3:c.1238+135_1238+138del , LRG_164t1:c.1238+135_1238+138del	NP_003147.2:n.1238+135_1238+138del
NM_001277962.2:c.1238+135_1238+138del	NP_001264891.1:n.1238+135_1238+138del
NM_001277961.3:c.1238+135_1238+138del	NP_001264890.1:n.1238+135_1238+138del
NM_001382566.1:c.1016+135_1016+138del	NP_001369495.1:n.1016+135_1016+138del
NM_001382567.1:c.1238+135_1238+138del MANE Select	NP_001369496.1:n.1238+135_1238+138del
NM_001382568.1:c.1239-125_1239-122del	NP_001369497.1:n.1239-125_1239-122del
NM_001382569.1:c.1103+135_1103+138del	NP_001369498.1:n.1103+135_1103+138del
NM_001382570.1:c.1010+135_1010+138del	NP_001369499.1:n.1010+135_1010+138del
NM_001382571.1:c.758+135_758+138del	NP_001369500.1:n.758+135_758+138del
NM_001382573.1:c.1016+135_1016+138del	NP_001369502.1:n.1016+135_1016+138del
NM_001382575.1:c.1016+135_1016+138del	NP_001369504.1:n.1016+135_1016+138del
NM_001382576.1:c.1016+135_1016+138del	NP_001369505.1:n.1016+135_1016+138del
NM_001382577.1:c.1016+135_1016+138del	NP_001369506.1:n.1016+135_1016+138del
NM_001382578.1:c.1016+135_1016+138del	NP_001369507.1:n.1016+135_1016+138del
NM_001382579.1:c.1016+135_1016+138del	NP_001369508.1:n.1016+135_1016+138del
NM_001382580.1:c.749+135_749+138del	NP_001369509.1:n.749+135_749+138del
NM_001382581.1:c.749+135_749+138del	NP_001369510.1:n.749+135_749+138del
NM_003156.4:c.1238+135_1238+138del	NP_003147.2:n.1238+135_1238+138del
NR_168436.1:n.1399-3360_1399-3357del
NR_168437.1:n.1667+135_1667+138del
NR_168438.1:n.1489+135_1489+138del