Canonical Allele Identifier: CA2612107257

Gene: STIM1

Linked Data

• gnomAD v4: 11-4083290-ATTGCGGGAGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083291_4083301del , CM000673.2:g.4083291_4083301del	GRCh38
NC_000011.9:g.4104521_4104531del , CM000673.1:g.4104521_4104531del	GRCh37
NC_000011.8:g.4061097_4061107del	NCBI36
NG_016277.1:g.232589_232599del , LRG_164:g.232589_232599del

Transcript Alleles

HGVS	Amino-acid change
ENST00000525403.6:c.1045_1055del	ENSP00000432210.2:p.Leu349ProfsTer?
ENST00000533343.2:n.1866_1876del
ENST00000698909.1:n.2124_2134del
ENST00000698910.1:c.778_788del	ENSP00000514024.1:p.Leu260ProfsTer?
ENST00000698911.1:c.1045_1055del	ENSP00000514025.1:p.Leu349ProfsTer?
ENST00000698912.1:c.1045_1055del	ENSP00000514026.1:p.Leu349ProfsTer?
ENST00000698913.1:c.1045_1055del	ENSP00000514027.1:p.Leu349ProfsTer?
ENST00000698915.1:c.1267_1277del	ENSP00000514029.1:p.Leu423ProfsTer?
ENST00000698916.1:c.1288_1298del	ENSP00000514030.1:p.Leu430ProfsTer?
ENST00000698918.1:c.*968_*978del	ENSP00000514031.1:n.*968_*978del
ENST00000698919.1:c.*200_*210del	ENSP00000514032.1:n.*200_*210del
ENST00000698920.1:n.567_577del
ENST00000526596.2:c.1267_1277del MANE Select	ENSP00000433266.2:p.Leu423ProfsTer?
ENST00000300737.8:c.1267_1277del	ENSP00000300737.4:p.Leu423ProfsTer?
ENST00000526596.1:c.459_469del
ENST00000527651.5:c.1267_1277del	ENSP00000436208.1:p.Leu423ProfsTer?
ENST00000531332.1:n.135_145del
ENST00000533343.1:n.277_287del
ENST00000533977.5:c.748_758del	ENSP00000434767.1:p.Leu250ProfsTer?
ENST00000616714.4:c.1267_1277del	ENSP00000478059.1:p.Leu423ProfsTer?
NM_001277961.1:c.1267_1277del	NP_001264890.1:p.Leu423ProfsTer?
NM_001277962.1:c.1267_1277del	NP_001264891.1:p.Leu423ProfsTer?
NM_003156.3:c.1267_1277del , LRG_164t1:c.1267_1277del	NP_003147.2:p.Leu423ProfsTer?
NM_001277962.2:c.1267_1277del	NP_001264891.1:p.Leu423ProfsTer?
NM_001277961.3:c.1267_1277del	NP_001264890.1:p.Leu423ProfsTer?
NM_001382566.1:c.1045_1055del	NP_001369495.1:p.Leu349ProfsTer?
NM_001382567.1:c.1267_1277del MANE Select	NP_001369496.1:p.Leu423ProfsTer?
NM_001382568.1:c.1288_1298del	NP_001369497.1:p.Leu430ProfsTer?
NM_001382569.1:c.1132_1142del	NP_001369498.1:p.Leu378ProfsTer?
NM_001382570.1:c.1039_1049del	NP_001369499.1:p.Leu347ProfsTer?
NM_001382571.1:c.787_797del	NP_001369500.1:p.Leu263ProfsTer?
NM_001382573.1:c.1045_1055del	NP_001369502.1:p.Leu349ProfsTer?
NM_001382575.1:c.1045_1055del	NP_001369504.1:p.Leu349ProfsTer?
NM_001382576.1:c.1045_1055del	NP_001369505.1:p.Leu349ProfsTer?
NM_001382577.1:c.1045_1055del	NP_001369506.1:p.Leu349ProfsTer?
NM_001382578.1:c.1045_1055del	NP_001369507.1:p.Leu349ProfsTer?
NM_001382579.1:c.1045_1055del	NP_001369508.1:p.Leu349ProfsTer?
NM_001382580.1:c.778_788del	NP_001369509.1:p.Leu260ProfsTer?
NM_001382581.1:c.778_788del	NP_001369510.1:p.Leu260ProfsTer?
NM_003156.4:c.1267_1277del	NP_003147.2:p.Leu423ProfsTer?
NR_168436.1:n.1399-3186_1399-3176del
NR_168437.1:n.1696_1706del
NR_168438.1:n.1518_1528del