Canonical Allele Identifier: CA2843449002
Gene: STIM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4083279dup , CM000673.2:g.4083279dup GRCh38
NC_000011.9:g.4104509dup , CM000673.1:g.4104509dup GRCh37
NC_000011.8:g.4061085dup NCBI36
NG_016277.1:g.232577dup , LRG_164:g.232577dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000525403.6:c.1033dup ENSP00000432210.2:p.Val345GlyfsTer?
ENST00000533343.2:n.1854dup
ENST00000698909.1:n.2112dup
ENST00000698910.1:c.766dup ENSP00000514024.1:p.Val256GlyfsTer?
ENST00000698911.1:c.1033dup ENSP00000514025.1:p.Val345GlyfsTer?
ENST00000698912.1:c.1033dup ENSP00000514026.1:p.Val345GlyfsTer?
ENST00000698913.1:c.1033dup ENSP00000514027.1:p.Val345GlyfsTer?
ENST00000698915.1:c.1255dup ENSP00000514029.1:p.Val419GlyfsTer?
ENST00000698916.1:c.1276dup ENSP00000514030.1:p.Val426GlyfsTer?
ENST00000698918.1:c.*956dup ENSP00000514031.1:n.*956dup
ENST00000698919.1:c.*188dup ENSP00000514032.1:n.*188dup
ENST00000698920.1:n.555dup
ENST00000526596.2:c.1255dup MANE Select ENSP00000433266.2:p.Val419GlyfsTer?
ENST00000300737.8:c.1255dup ENSP00000300737.4:p.Val419GlyfsTer?
ENST00000526596.1:c.447dup
ENST00000527651.5:c.1255dup ENSP00000436208.1:p.Val419GlyfsTer?
ENST00000531332.1:n.123dup
ENST00000533343.1:n.265dup
ENST00000533977.5:c.736dup ENSP00000434767.1:p.Val246GlyfsTer?
ENST00000616714.4:c.1255dup ENSP00000478059.1:p.Val419GlyfsTer?
NM_001277961.1:c.1255dup NP_001264890.1:p.Val419GlyfsTer?
NM_001277962.1:c.1255dup NP_001264891.1:p.Val419GlyfsTer?
NM_003156.3:c.1255dup , LRG_164t1:c.1255dup NP_003147.2:p.Val419GlyfsTer?
NM_001277962.2:c.1255dup NP_001264891.1:p.Val419GlyfsTer?
NM_001277961.3:c.1255dup NP_001264890.1:p.Val419GlyfsTer?
NM_001382566.1:c.1033dup NP_001369495.1:p.Val345GlyfsTer?
NM_001382567.1:c.1255dup MANE Select NP_001369496.1:p.Val419GlyfsTer?
NM_001382568.1:c.1276dup NP_001369497.1:p.Val426GlyfsTer?
NM_001382569.1:c.1120dup NP_001369498.1:p.Val374GlyfsTer?
NM_001382570.1:c.1027dup NP_001369499.1:p.Val343GlyfsTer?
NM_001382571.1:c.775dup NP_001369500.1:p.Val259GlyfsTer?
NM_001382573.1:c.1033dup NP_001369502.1:p.Val345GlyfsTer?
NM_001382575.1:c.1033dup NP_001369504.1:p.Val345GlyfsTer?
NM_001382576.1:c.1033dup NP_001369505.1:p.Val345GlyfsTer?
NM_001382577.1:c.1033dup NP_001369506.1:p.Val345GlyfsTer?
NM_001382578.1:c.1033dup NP_001369507.1:p.Val345GlyfsTer?
NM_001382579.1:c.1033dup NP_001369508.1:p.Val345GlyfsTer?
NM_001382580.1:c.766dup NP_001369509.1:p.Val256GlyfsTer?
NM_001382581.1:c.766dup NP_001369510.1:p.Val256GlyfsTer?
NM_003156.4:c.1255dup NP_003147.2:p.Val419GlyfsTer?
NR_168436.1:n.1399-3198dup
NR_168437.1:n.1684dup
NR_168438.1:n.1506dup