Canonical Allele Identifier: CA2499220945

Gene: STIM1

Linked Data

• ClinVar Variation Id: 1131762
• ClinVar RCV Id: RCV001465749
• dbSNP Id: rs2133225817

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4083259del , CM000673.2:g.4083259del	GRCh38
NC_000011.9:g.4104489del , CM000673.1:g.4104489del	GRCh37
NC_000011.8:g.4061065del	NCBI36
NG_016277.1:g.232557del , LRG_164:g.232557del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.1017-4del	ENSP00000432210.2:n.1017-4del
ENST00000533343.2:n.1838-4del
ENST00000698909.1:n.2092del
ENST00000698910.1:c.750-4del	ENSP00000514024.1:n.750-4del
ENST00000698911.1:c.1017-4del	ENSP00000514025.1:n.1017-4del
ENST00000698912.1:c.1017-4del	ENSP00000514026.1:n.1017-4del
ENST00000698913.1:c.1017-4del	ENSP00000514027.1:n.1017-4del
ENST00000698915.1:c.1239-4del	ENSP00000514029.1:n.1239-4del
ENST00000698916.1:c.1260-4del	ENSP00000514030.1:n.1260-4del
ENST00000698918.1:c.*940-4del	ENSP00000514031.1:n.*940-4del
ENST00000698919.1:c.*172-4del	ENSP00000514032.1:n.*172-4del
ENST00000698920.1:n.539-4del
ENST00000526596.2:c.1239-4del MANE Select	ENSP00000433266.2:n.1239-4del
ENST00000300737.8:c.1239-4del	ENSP00000300737.4:n.1239-4del
ENST00000526596.1:c.431-4del
ENST00000527651.5:c.1239-4del	ENSP00000436208.1:n.1239-4del
ENST00000531332.1:n.103del
ENST00000533343.1:n.249-4del
ENST00000533977.5:c.720-4del	ENSP00000434767.1:n.720-4del
ENST00000616714.4:c.1239-4del	ENSP00000478059.1:n.1239-4del
NM_001277961.1:c.1239-4del	NP_001264890.1:n.1239-4del
NM_001277962.1:c.1239-4del	NP_001264891.1:n.1239-4del
NM_003156.3:c.1239-4del , LRG_164t1:c.1239-4del	NP_003147.2:n.1239-4del
NM_001277962.2:c.1239-4del	NP_001264891.1:n.1239-4del
NM_001277961.3:c.1239-4del	NP_001264890.1:n.1239-4del
NM_001382566.1:c.1017-4del	NP_001369495.1:n.1017-4del
NM_001382567.1:c.1239-4del MANE Select	NP_001369496.1:n.1239-4del
NM_001382568.1:c.1256del	NP_001369497.1:p.Phe419SerfsTer5
NM_001382569.1:c.1104-4del	NP_001369498.1:n.1104-4del
NM_001382570.1:c.1011-4del	NP_001369499.1:n.1011-4del
NM_001382571.1:c.759-4del	NP_001369500.1:n.759-4del
NM_001382573.1:c.1017-4del	NP_001369502.1:n.1017-4del
NM_001382575.1:c.1017-4del	NP_001369504.1:n.1017-4del
NM_001382576.1:c.1017-4del	NP_001369505.1:n.1017-4del
NM_001382577.1:c.1017-4del	NP_001369506.1:n.1017-4del
NM_001382578.1:c.1017-4del	NP_001369507.1:n.1017-4del
NM_001382579.1:c.1017-4del	NP_001369508.1:n.1017-4del
NM_001382580.1:c.750-4del	NP_001369509.1:n.750-4del
NM_001382581.1:c.750-4del	NP_001369510.1:n.750-4del
NM_003156.4:c.1239-4del	NP_003147.2:n.1239-4del
NR_168436.1:n.1399-3218del
NR_168437.1:n.1668-4del
NR_168438.1:n.1490-4del