Canonical Allele Identifier: CA2740093592
Gene: STIM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2951802
ClinVar RCV Id: RCV003812489

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4083514_4083515delinsTG , CM000673.2:g.4083514_4083515delinsTG GRCh38
NC_000011.9:g.4104744_4104745delinsTG , CM000673.1:g.4104744_4104745delinsTG GRCh37
NC_000011.8:g.4061320_4061321delinsTG NCBI36
NG_016277.1:g.232812_232813delinsTG , LRG_164:g.232812_232813delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.1252+16_1252+17delinsTG ENSP00000432210.2:n.1252+16_1252+17delinsTG
ENST00000533343.2:n.2089_2090delinsTG
ENST00000698909.1:n.2331+16_2331+17delinsTG
ENST00000698910.1:c.985+16_985+17delinsTG ENSP00000514024.1:n.985+16_985+17delinsTG
ENST00000698911.1:c.1252+16_1252+17delinsTG ENSP00000514025.1:n.1252+16_1252+17delinsTG
ENST00000698912.1:c.1252+16_1252+17delinsTG ENSP00000514026.1:n.1252+16_1252+17delinsTG
ENST00000698913.1:c.1252+16_1252+17delinsTG ENSP00000514027.1:n.1252+16_1252+17delinsTG
ENST00000698915.1:c.1474+16_1474+17delinsTG ENSP00000514029.1:n.1474+16_1474+17delinsTG
ENST00000698916.1:c.1495+16_1495+17delinsTG ENSP00000514030.1:n.1495+16_1495+17delinsTG
ENST00000698918.1:c.*1175+16_*1175+17delinsTG ENSP00000514031.1:n.*1175+16_*1175+17delinsTG
ENST00000698919.1:c.*407+16_*407+17delinsTG ENSP00000514032.1:n.*407+16_*407+17delinsTG
ENST00000698920.1:n.774+16_774+17delinsTG
ENST00000526596.2:c.1474+16_1474+17delinsTG MANE Select ENSP00000433266.2:n.1474+16_1474+17delinsTG
ENST00000300737.8:c.1474+16_1474+17delinsTG ENSP00000300737.4:n.1474+16_1474+17delinsTG
ENST00000526596.1:c.666+16_666+17delinsTG
ENST00000527651.5:c.1474+16_1474+17delinsTG ENSP00000436208.1:n.1474+16_1474+17delinsTG
ENST00000531332.1:n.342+16_342+17delinsTG
ENST00000533343.1:n.500_501delinsTG
ENST00000533977.5:c.955+16_955+17delinsTG ENSP00000434767.1:n.955+16_955+17delinsTG
ENST00000616714.4:c.1474+16_1474+17delinsTG ENSP00000478059.1:n.1474+16_1474+17delinsTG
NM_001277961.1:c.1474+16_1474+17delinsTG NP_001264890.1:n.1474+16_1474+17delinsTG
NM_001277962.1:c.1474+16_1474+17delinsTG NP_001264891.1:n.1474+16_1474+17delinsTG
NM_003156.3:c.1474+16_1474+17delinsTG , LRG_164t1:c.1474+16_1474+17delinsTG NP_003147.2:n.1474+16_1474+17delinsTG
NM_001277962.2:c.1474+16_1474+17delinsTG NP_001264891.1:n.1474+16_1474+17delinsTG
NM_001277961.3:c.1474+16_1474+17delinsTG NP_001264890.1:n.1474+16_1474+17delinsTG
NM_001382566.1:c.1252+16_1252+17delinsTG NP_001369495.1:n.1252+16_1252+17delinsTG
NM_001382567.1:c.1474+16_1474+17delinsTG MANE Select NP_001369496.1:n.1474+16_1474+17delinsTG
NM_001382568.1:c.1495+16_1495+17delinsTG NP_001369497.1:n.1495+16_1495+17delinsTG
NM_001382569.1:c.1339+16_1339+17delinsTG NP_001369498.1:n.1339+16_1339+17delinsTG
NM_001382570.1:c.1246+16_1246+17delinsTG NP_001369499.1:n.1246+16_1246+17delinsTG
NM_001382571.1:c.994+16_994+17delinsTG NP_001369500.1:n.994+16_994+17delinsTG
NM_001382573.1:c.*8_*9delinsTG NP_001369502.1:n.*8_*9delinsTG
NM_001382575.1:c.1252+16_1252+17delinsTG NP_001369504.1:n.1252+16_1252+17delinsTG
NM_001382576.1:c.1252+16_1252+17delinsTG NP_001369505.1:n.1252+16_1252+17delinsTG
NM_001382577.1:c.1252+16_1252+17delinsTG NP_001369506.1:n.1252+16_1252+17delinsTG
NM_001382578.1:c.1252+16_1252+17delinsTG NP_001369507.1:n.1252+16_1252+17delinsTG
NM_001382579.1:c.1252+16_1252+17delinsTG NP_001369508.1:n.1252+16_1252+17delinsTG
NM_001382580.1:c.985+16_985+17delinsTG NP_001369509.1:n.985+16_985+17delinsTG
NM_001382581.1:c.985+16_985+17delinsTG NP_001369510.1:n.985+16_985+17delinsTG
NM_003156.4:c.1474+16_1474+17delinsTG NP_003147.2:n.1474+16_1474+17delinsTG
NR_168436.1:n.1399-2963_1399-2962delinsTG
NR_168437.1:n.1903+16_1903+17delinsTG
NR_168438.1:n.1725+16_1725+17delinsTG