Canonical Allele Identifier: CA2612107271

Gene: STIM1

Linked Data

• gnomAD v4: 11-4083523-A-AAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083525_4083527dup , CM000673.2:g.4083525_4083527dup	GRCh38
NC_000011.9:g.4104755_4104757dup , CM000673.1:g.4104755_4104757dup	GRCh37
NC_000011.8:g.4061331_4061333dup	NCBI36
NG_016277.1:g.232823_232825dup , LRG_164:g.232823_232825dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.1252+27_1252+29dup	ENSP00000432210.2:n.1252+27_1252+29dup
ENST00000533343.2:n.2100_2102dup
ENST00000698909.1:n.2331+27_2331+29dup
ENST00000698910.1:c.985+27_985+29dup	ENSP00000514024.1:n.985+27_985+29dup
ENST00000698911.1:c.1252+27_1252+29dup	ENSP00000514025.1:n.1252+27_1252+29dup
ENST00000698912.1:c.1252+27_1252+29dup	ENSP00000514026.1:n.1252+27_1252+29dup
ENST00000698913.1:c.1252+27_1252+29dup	ENSP00000514027.1:n.1252+27_1252+29dup
ENST00000698915.1:c.1474+27_1474+29dup	ENSP00000514029.1:n.1474+27_1474+29dup
ENST00000698916.1:c.1495+27_1495+29dup	ENSP00000514030.1:n.1495+27_1495+29dup
ENST00000698918.1:c.*1175+27_*1175+29dup	ENSP00000514031.1:n.*1175+27_*1175+29dup
ENST00000698919.1:c.*407+27_*407+29dup	ENSP00000514032.1:n.*407+27_*407+29dup
ENST00000698920.1:n.774+27_774+29dup
ENST00000526596.2:c.1474+27_1474+29dup MANE Select	ENSP00000433266.2:n.1474+27_1474+29dup
ENST00000300737.8:c.1474+27_1474+29dup	ENSP00000300737.4:n.1474+27_1474+29dup
ENST00000526596.1:c.666+27_666+29dup
ENST00000527651.5:c.1474+27_1474+29dup	ENSP00000436208.1:n.1474+27_1474+29dup
ENST00000531332.1:n.342+27_342+29dup
ENST00000533343.1:n.511_513dup
ENST00000533977.5:c.955+27_955+29dup	ENSP00000434767.1:n.955+27_955+29dup
ENST00000616714.4:c.1474+27_1474+29dup	ENSP00000478059.1:n.1474+27_1474+29dup
NM_001277961.1:c.1474+27_1474+29dup	NP_001264890.1:n.1474+27_1474+29dup
NM_001277962.1:c.1474+27_1474+29dup	NP_001264891.1:n.1474+27_1474+29dup
NM_003156.3:c.1474+27_1474+29dup , LRG_164t1:c.1474+27_1474+29dup	NP_003147.2:n.1474+27_1474+29dup
NM_001277962.2:c.1474+27_1474+29dup	NP_001264891.1:n.1474+27_1474+29dup
NM_001277961.3:c.1474+27_1474+29dup	NP_001264890.1:n.1474+27_1474+29dup
NM_001382566.1:c.1252+27_1252+29dup	NP_001369495.1:n.1252+27_1252+29dup
NM_001382567.1:c.1474+27_1474+29dup MANE Select	NP_001369496.1:n.1474+27_1474+29dup
NM_001382568.1:c.1495+27_1495+29dup	NP_001369497.1:n.1495+27_1495+29dup
NM_001382569.1:c.1339+27_1339+29dup	NP_001369498.1:n.1339+27_1339+29dup
NM_001382570.1:c.1246+27_1246+29dup	NP_001369499.1:n.1246+27_1246+29dup
NM_001382571.1:c.994+27_994+29dup	NP_001369500.1:n.994+27_994+29dup
NM_001382573.1:c.*19_*21dup	NP_001369502.1:n.*19_*21dup
NM_001382575.1:c.1252+27_1252+29dup	NP_001369504.1:n.1252+27_1252+29dup
NM_001382576.1:c.1252+27_1252+29dup	NP_001369505.1:n.1252+27_1252+29dup
NM_001382577.1:c.1252+27_1252+29dup	NP_001369506.1:n.1252+27_1252+29dup
NM_001382578.1:c.1252+27_1252+29dup	NP_001369507.1:n.1252+27_1252+29dup
NM_001382579.1:c.1252+27_1252+29dup	NP_001369508.1:n.1252+27_1252+29dup
NM_001382580.1:c.985+27_985+29dup	NP_001369509.1:n.985+27_985+29dup
NM_001382581.1:c.985+27_985+29dup	NP_001369510.1:n.985+27_985+29dup
NM_003156.4:c.1474+27_1474+29dup	NP_003147.2:n.1474+27_1474+29dup
NR_168436.1:n.1399-2952_1399-2950dup
NR_168437.1:n.1903+27_1903+29dup
NR_168438.1:n.1725+27_1725+29dup