Canonical Allele Identifier: CA2580083897

Gene: STIM1

Linked Data

• ClinVar Variation Id: 2146608
• ClinVar RCV Id: RCV003074647

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083515_4083516delinsGT , CM000673.2:g.4083515_4083516delinsGT	GRCh38
NC_000011.9:g.4104745_4104746delinsGT , CM000673.1:g.4104745_4104746delinsGT	GRCh37
NC_000011.8:g.4061321_4061322delinsGT	NCBI36
NG_016277.1:g.232813_232814delinsGT , LRG_164:g.232813_232814delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.1252+17_1252+18delinsGT	ENSP00000432210.2:n.1252+17_1252+18delinsGT
ENST00000533343.2:n.2090_2091delinsGT
ENST00000698909.1:n.2331+17_2331+18delinsGT
ENST00000698910.1:c.985+17_985+18delinsGT	ENSP00000514024.1:n.985+17_985+18delinsGT
ENST00000698911.1:c.1252+17_1252+18delinsGT	ENSP00000514025.1:n.1252+17_1252+18delinsGT
ENST00000698912.1:c.1252+17_1252+18delinsGT	ENSP00000514026.1:n.1252+17_1252+18delinsGT
ENST00000698913.1:c.1252+17_1252+18delinsGT	ENSP00000514027.1:n.1252+17_1252+18delinsGT
ENST00000698915.1:c.1474+17_1474+18delinsGT	ENSP00000514029.1:n.1474+17_1474+18delinsGT
ENST00000698916.1:c.1495+17_1495+18delinsGT	ENSP00000514030.1:n.1495+17_1495+18delinsGT
ENST00000698918.1:c.*1175+17_*1175+18delinsGT	ENSP00000514031.1:n.*1175+17_*1175+18delinsGT
ENST00000698919.1:c.*407+17_*407+18delinsGT	ENSP00000514032.1:n.*407+17_*407+18delinsGT
ENST00000698920.1:n.774+17_774+18delinsGT
ENST00000526596.2:c.1474+17_1474+18delinsGT MANE Select	ENSP00000433266.2:n.1474+17_1474+18delinsGT
ENST00000300737.8:c.1474+17_1474+18delinsGT	ENSP00000300737.4:n.1474+17_1474+18delinsGT
ENST00000526596.1:c.666+17_666+18delinsGT
ENST00000527651.5:c.1474+17_1474+18delinsGT	ENSP00000436208.1:n.1474+17_1474+18delinsGT
ENST00000531332.1:n.342+17_342+18delinsGT
ENST00000533343.1:n.501_502delinsGT
ENST00000533977.5:c.955+17_955+18delinsGT	ENSP00000434767.1:n.955+17_955+18delinsGT
ENST00000616714.4:c.1474+17_1474+18delinsGT	ENSP00000478059.1:n.1474+17_1474+18delinsGT
NM_001277961.1:c.1474+17_1474+18delinsGT	NP_001264890.1:n.1474+17_1474+18delinsGT
NM_001277962.1:c.1474+17_1474+18delinsGT	NP_001264891.1:n.1474+17_1474+18delinsGT
NM_003156.3:c.1474+17_1474+18delinsGT , LRG_164t1:c.1474+17_1474+18delinsGT	NP_003147.2:n.1474+17_1474+18delinsGT
NM_001277962.2:c.1474+17_1474+18delinsGT	NP_001264891.1:n.1474+17_1474+18delinsGT
NM_001277961.3:c.1474+17_1474+18delinsGT	NP_001264890.1:n.1474+17_1474+18delinsGT
NM_001382566.1:c.1252+17_1252+18delinsGT	NP_001369495.1:n.1252+17_1252+18delinsGT
NM_001382567.1:c.1474+17_1474+18delinsGT MANE Select	NP_001369496.1:n.1474+17_1474+18delinsGT
NM_001382568.1:c.1495+17_1495+18delinsGT	NP_001369497.1:n.1495+17_1495+18delinsGT
NM_001382569.1:c.1339+17_1339+18delinsGT	NP_001369498.1:n.1339+17_1339+18delinsGT
NM_001382570.1:c.1246+17_1246+18delinsGT	NP_001369499.1:n.1246+17_1246+18delinsGT
NM_001382571.1:c.994+17_994+18delinsGT	NP_001369500.1:n.994+17_994+18delinsGT
NM_001382573.1:c.*9_*10delinsGT	NP_001369502.1:n.*9_*10delinsGT
NM_001382575.1:c.1252+17_1252+18delinsGT	NP_001369504.1:n.1252+17_1252+18delinsGT
NM_001382576.1:c.1252+17_1252+18delinsGT	NP_001369505.1:n.1252+17_1252+18delinsGT
NM_001382577.1:c.1252+17_1252+18delinsGT	NP_001369506.1:n.1252+17_1252+18delinsGT
NM_001382578.1:c.1252+17_1252+18delinsGT	NP_001369507.1:n.1252+17_1252+18delinsGT
NM_001382579.1:c.1252+17_1252+18delinsGT	NP_001369508.1:n.1252+17_1252+18delinsGT
NM_001382580.1:c.985+17_985+18delinsGT	NP_001369509.1:n.985+17_985+18delinsGT
NM_001382581.1:c.985+17_985+18delinsGT	NP_001369510.1:n.985+17_985+18delinsGT
NM_003156.4:c.1474+17_1474+18delinsGT	NP_003147.2:n.1474+17_1474+18delinsGT
NR_168436.1:n.1399-2962_1399-2961delinsGT
NR_168437.1:n.1903+17_1903+18delinsGT
NR_168438.1:n.1725+17_1725+18delinsGT