Canonical Allele Identifier: CA2612108991

Gene: STIM1

Linked Data

• gnomAD v4: 11-4091554-C-CTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.4091558_4091560dup , CM000673.2:g.4091558_4091560dup	GRCh38
NC_000011.9:g.4112788_4112790dup , CM000673.1:g.4112788_4112790dup	GRCh37
NC_000011.8:g.4069364_4069366dup	NCBI36
NG_016277.1:g.240856_240858dup , LRG_164:g.240856_240858dup
NG_027992.2:g.1865_1867dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525403.6:c.*232_*234dup	ENSP00000432210.2:n.*232_*234dup
ENST00000698910.1:c.1329_1331dup	ENSP00000514024.1:p.Gly444_Ser445insGly
ENST00000698911.1:c.1914_1916dup	ENSP00000514025.1:p.Gly639_Ser640insGly
ENST00000698912.1:c.*232_*234dup	ENSP00000514026.1:n.*232_*234dup
ENST00000698913.1:c.1596_1598dup	ENSP00000514027.1:p.Gly533_Ser534insGly
ENST00000698915.1:c.1902_1904dup	ENSP00000514029.1:p.Gly635_Ser636insGly
ENST00000698916.1:c.1839_1841dup	ENSP00000514030.1:p.Gly614_Ser615insGly
ENST00000698918.1:c.*1556_*1558dup	ENSP00000514031.1:n.*1556_*1558dup
ENST00000698919.1:c.*751_*753dup	ENSP00000514032.1:n.*751_*753dup
ENST00000698920.1:n.1118_1120dup
ENST00000526596.2:c.1911_1913dup MANE Select	ENSP00000433266.2:p.Gly638_Ser639insGly
ENST00000300737.8:c.1818_1820dup	ENSP00000300737.4:p.Gly607_Ser608insGly
ENST00000526156.1:n.616_618dup
ENST00000526596.1:c.1103_1105dup
ENST00000527651.5:c.*232_*234dup	ENSP00000436208.1:n.*232_*234dup
ENST00000533977.5:c.1299_1301dup	ENSP00000434767.1:p.Gly434_Ser435insGly
ENST00000616714.4:c.2136_2138dup	ENSP00000478059.1:p.Gly713_Ser714insGly
NM_001277961.1:c.2136_2138dup	NP_001264890.1:p.Gly713_Ser714insGly
NM_001277962.1:c.*232_*234dup	NP_001264891.1:n.*232_*234dup
NM_003156.3:c.1818_1820dup , LRG_164t1:c.1818_1820dup	NP_003147.2:p.Gly607_Ser608insGly
NM_001277962.2:c.*232_*234dup	NP_001264891.1:n.*232_*234dup
NM_001277961.3:c.2136_2138dup	NP_001264890.1:p.Gly713_Ser714insGly
NM_001382566.1:c.1914_1916dup	NP_001369495.1:p.Gly639_Ser640insGly
NM_001382567.1:c.1911_1913dup MANE Select	NP_001369496.1:p.Gly638_Ser639insGly
NM_001382568.1:c.1839_1841dup	NP_001369497.1:p.Gly614_Ser615insGly
NM_001382569.1:c.1683_1685dup	NP_001369498.1:p.Gly562_Ser563insGly
NM_001382570.1:c.1590_1592dup	NP_001369499.1:p.Gly531_Ser532insGly
NM_001382571.1:c.1338_1340dup	NP_001369500.1:p.Gly447_Ser448insGly
NM_001382575.1:c.1596_1598dup	NP_001369504.1:p.Gly533_Ser534insGly
NM_001382576.1:c.1596_1598dup	NP_001369505.1:p.Gly533_Ser534insGly
NM_001382577.1:c.1596_1598dup	NP_001369506.1:p.Gly533_Ser534insGly
NM_001382578.1:c.*232_*234dup	NP_001369507.1:n.*232_*234dup
NM_001382579.1:c.*232_*234dup	NP_001369508.1:n.*232_*234dup
NM_001382580.1:c.*232_*234dup	NP_001369509.1:n.*232_*234dup
NM_001382581.1:c.1329_1331dup	NP_001369510.1:p.Gly444_Ser445insGly
NM_003156.4:c.1818_1820dup	NP_003147.2:p.Gly607_Ser608insGly
NR_168436.1:n.1742_1744dup
NR_168437.1:n.2247_2249dup
NR_168438.1:n.2069_2071dup