Canonical Allele Identifier: CA2612107347

Gene: STIM1

Linked Data

• gnomAD v4: 11-4083634-AAAGCACAATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083635_4083644del , CM000673.2:g.4083635_4083644del	GRCh38
NC_000011.9:g.4104865_4104874del , CM000673.1:g.4104865_4104874del	GRCh37
NC_000011.8:g.4061441_4061450del	NCBI36
NG_016277.1:g.232933_232942del , LRG_164:g.232933_232942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.1252+137_1252+146del	ENSP00000432210.2:n.1252+137_1252+146del
ENST00000533343.2:n.2210_2219del
ENST00000698909.1:n.2331+137_2331+146del
ENST00000698910.1:c.985+137_985+146del	ENSP00000514024.1:n.985+137_985+146del
ENST00000698911.1:c.1252+137_1252+146del	ENSP00000514025.1:n.1252+137_1252+146del
ENST00000698912.1:c.1252+137_1252+146del	ENSP00000514026.1:n.1252+137_1252+146del
ENST00000698913.1:c.1252+137_1252+146del	ENSP00000514027.1:n.1252+137_1252+146del
ENST00000698915.1:c.1474+137_1474+146del	ENSP00000514029.1:n.1474+137_1474+146del
ENST00000698916.1:c.1495+137_1495+146del	ENSP00000514030.1:n.1495+137_1495+146del
ENST00000698918.1:c.*1175+137_*1175+146del	ENSP00000514031.1:n.*1175+137_*1175+146del
ENST00000698919.1:c.*407+137_*407+146del	ENSP00000514032.1:n.*407+137_*407+146del
ENST00000698920.1:n.774+137_774+146del
ENST00000526596.2:c.1474+137_1474+146del MANE Select	ENSP00000433266.2:n.1474+137_1474+146del
ENST00000300737.8:c.1474+137_1474+146del	ENSP00000300737.4:n.1474+137_1474+146del
ENST00000526596.1:c.666+137_666+146del
ENST00000527651.5:c.1474+137_1474+146del	ENSP00000436208.1:n.1474+137_1474+146del
ENST00000531332.1:n.342+137_342+146del
ENST00000533343.1:n.621_630del
ENST00000533977.5:c.955+137_955+146del	ENSP00000434767.1:n.955+137_955+146del
ENST00000616714.4:c.1474+137_1474+146del	ENSP00000478059.1:n.1474+137_1474+146del
NM_001277961.1:c.1474+137_1474+146del	NP_001264890.1:n.1474+137_1474+146del
NM_001277962.1:c.1474+137_1474+146del	NP_001264891.1:n.1474+137_1474+146del
NM_003156.3:c.1474+137_1474+146del , LRG_164t1:c.1474+137_1474+146del	NP_003147.2:n.1474+137_1474+146del
NM_001277962.2:c.1474+137_1474+146del	NP_001264891.1:n.1474+137_1474+146del
NM_001277961.3:c.1474+137_1474+146del	NP_001264890.1:n.1474+137_1474+146del
NM_001382566.1:c.1252+137_1252+146del	NP_001369495.1:n.1252+137_1252+146del
NM_001382567.1:c.1474+137_1474+146del MANE Select	NP_001369496.1:n.1474+137_1474+146del
NM_001382568.1:c.1495+137_1495+146del	NP_001369497.1:n.1495+137_1495+146del
NM_001382569.1:c.1339+137_1339+146del	NP_001369498.1:n.1339+137_1339+146del
NM_001382570.1:c.1246+137_1246+146del	NP_001369499.1:n.1246+137_1246+146del
NM_001382571.1:c.994+137_994+146del	NP_001369500.1:n.994+137_994+146del
NM_001382573.1:c.*129_*138del	NP_001369502.1:n.*129_*138del
NM_001382575.1:c.1252+137_1252+146del	NP_001369504.1:n.1252+137_1252+146del
NM_001382576.1:c.1252+137_1252+146del	NP_001369505.1:n.1252+137_1252+146del
NM_001382577.1:c.1252+137_1252+146del	NP_001369506.1:n.1252+137_1252+146del
NM_001382578.1:c.1252+137_1252+146del	NP_001369507.1:n.1252+137_1252+146del
NM_001382579.1:c.1252+137_1252+146del	NP_001369508.1:n.1252+137_1252+146del
NM_001382580.1:c.985+137_985+146del	NP_001369509.1:n.985+137_985+146del
NM_001382581.1:c.985+137_985+146del	NP_001369510.1:n.985+137_985+146del
NM_003156.4:c.1474+137_1474+146del	NP_003147.2:n.1474+137_1474+146del
NR_168436.1:n.1399-2842_1399-2833del
NR_168437.1:n.1903+137_1903+146del
NR_168438.1:n.1725+137_1725+146del