Canonical Allele Identifier: CA16616021

Gene: STK11

Linked Data

• ClinVar Variation Id: 403750
• ClinVar RCV Id: RCV001566266
• dbSNP Id: rs121913321
• gnomAD v2: 19-1221313-G-GC
• gnomAD v4: 19-1221314-G-GC
• COSMIC: COSM25851 ; COSM6028339 ; COSM6028340
• MyVariant Identifiers: chr19:g.1221319dupC (hg19) ; chr19:g.1221313_1221314insC (hg19) ; chr19:g.1221320dupC (hg38) ; chr19:g.1221314_1221315insC (hg38)
• PubMed: PMID:15863673 ; PMID:16110486 ; PMID:16287113

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221320dup , CM000681.2:g.1221320dup	GRCh38
NC_000019.9:g.1221319dup , CM000681.1:g.1221319dup	GRCh37
NC_000019.8:g.1172319dup	NCBI36
NG_007460.2:g.36914dup , LRG_319:g.36914dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.842dup	ENSP00000490268.2:p.Leu282AlafsTer3
ENST00000585748.3:c.470dup	ENSP00000477641.2:p.Leu158AlafsTer3
ENST00000585851.2:c.668dup	ENSP00000467912.2:p.Leu224AlafsTer3
ENST00000326873.12:c.842dup MANE Select	ENSP00000324856.6:p.Leu282AlafsTer3
ENST00000652231.1:c.842dup	ENSP00000498804.1:p.Leu282AlafsTer3
ENST00000326873.11:c.842dup	ENSP00000324856.6:p.Leu282AlafsTer3
ENST00000586243.5:c.842dup	ENSP00000467240.2:p.Leu282AlafsTer3
ENST00000586358.5:n.740dup
ENST00000589152.5:n.932dup
ENST00000591133.2:n.813dup
NM_000455.4:c.842dup , LRG_319t1:c.842dup	NP_000446.1:p.Leu282AlafsTer3
XM_005259617.1:c.842dup	XP_005259674.1:p.Leu282AlafsTer3
XM_005259618.3:c.842dup	XP_005259675.1:p.Leu282AlafsTer3
XM_011528209.1:c.620dup	XP_011526511.1:p.Leu208AlafsTer3
XR_936204.1:n.1467dup
XM_005259617.3:c.842dup	XP_005259674.1:p.Leu282AlafsTer3
XM_011528209.2:c.620dup	XP_011526511.1:p.Leu208AlafsTer3
XR_001753738.2:n.1467dup
XR_001753739.1:n.1467dup
XR_001753740.2:n.1467dup
NM_000455.5:c.842dup MANE Select	NP_000446.1:p.Leu282AlafsTer3