Canonical Allele Identifier: CA631299760

Gene: STK11

Linked Data

• ClinVar Variation Id: 822083
• ClinVar RCV Id: RCV001017146 ; RCV001211505
• dbSNP Id: rs1264780659
• gnomAD v2: 19-1223115-A-AGGACCT
• gnomAD v4: 19-1223116-A-AGGACCT
• MyVariant Identifiers: chr19:g.1223115_1223116insGGACCT (hg19) ; chr19:g.1223116_1223117insGGACCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223117_1223122dup , CM000681.2:g.1223117_1223122dup	GRCh38
NC_000019.9:g.1223116_1223121dup , CM000681.1:g.1223116_1223121dup	GRCh37
NC_000019.8:g.1174116_1174121dup	NCBI36
NG_007460.2:g.38711_38716dup , LRG_319:g.38711_38716dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1053_1058dup	ENSP00000490268.2:p.Leu353_Phe354insAspLeu
ENST00000585748.3:c.681_686dup	ENSP00000477641.2:p.Leu229_Phe230insAspLeu
ENST00000585851.2:c.879_884dup	ENSP00000467912.2:p.Leu295_Phe296insAspLeu
ENST00000326873.12:c.1053_1058dup MANE Select	ENSP00000324856.6:p.Leu353_Phe354insAspLeu
ENST00000652231.1:c.1053_1058dup	ENSP00000498804.1:p.Leu353_Phe354insAspLeu
ENST00000326873.11:c.1053_1058dup	ENSP00000324856.6:p.Leu353_Phe354insAspLeu
ENST00000586243.5:c.1053_1058dup	ENSP00000467240.2:p.Leu353_Phe354insAspLeu
ENST00000589152.5:n.1751_1756dup
NM_000455.4:c.1053_1058dup , LRG_319t1:c.1053_1058dup	NP_000446.1:p.Leu353_Phe354insAspLeu
XM_005259617.1:c.1053_1058dup	XP_005259674.1:p.Leu353_Phe354insAspLeu
XM_005259618.3:c.1053_1058dup	XP_005259675.1:p.Leu353_Phe354insAspLeu
XM_011528209.1:c.831_836dup	XP_011526511.1:p.Leu279_Phe280insAspLeu
XR_936204.1:n.1829_1834dup
XM_005259617.3:c.1053_1058dup	XP_005259674.1:p.Leu353_Phe354insAspLeu
XM_011528209.2:c.831_836dup	XP_011526511.1:p.Leu279_Phe280insAspLeu
XR_001753738.2:n.1859_1864dup
XR_001753739.1:n.1859_1864dup
XR_001753740.2:n.1829_1834dup
NM_000455.5:c.1053_1058dup MANE Select	NP_000446.1:p.Leu353_Phe354insAspLeu