Canonical Allele Identifier: CA645369768

Gene: STK11

Linked Data

• ClinVar Variation Id: 428769
• ClinVar RCV Id: RCV000492296
• dbSNP Id: rs1131690933
• MyVariant Identifiers: chr19:g.1218488_1218492dup (hg19) ; chr19:g.1218489_1218493dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1218489_1218493dup , CM000681.2:g.1218489_1218493dup	GRCh38
NC_000019.9:g.1218488_1218492dup , CM000681.1:g.1218488_1218492dup	GRCh37
NC_000019.8:g.1169488_1169492dup	NCBI36
NG_007460.2:g.34083_34087dup , LRG_319:g.34083_34087dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.363_367dup	ENSP00000490268.2:p.Gln123ArgfsTer8
ENST00000585748.3:c.-10_-6dup	ENSP00000477641.2:n.-10_-6dup
ENST00000585851.2:c.291-1884_291-1880dup	ENSP00000467912.2:n.291-1884_291-1880dup
ENST00000326873.12:c.363_367dup MANE Select	ENSP00000324856.6:p.Gln123ArgfsTer8
ENST00000652231.1:c.363_367dup	ENSP00000498804.1:p.Gln123ArgfsTer8
ENST00000326873.11:c.363_367dup	ENSP00000324856.6:p.Gln123ArgfsTer8
ENST00000585748.2:c.-10_-6dup	ENSP00000477641.1:n.-10_-6dup
ENST00000585851.1:c.291-1884_291-1880dup	ENSP00000467912.1:n.291-1884_291-1880dup
ENST00000586243.5:c.363_367dup	ENSP00000467240.2:p.Gln123ArgfsTer8
ENST00000586358.5:n.186_190dup
ENST00000589152.5:n.453_457dup
ENST00000593219.5:c.*188_*192dup	ENSP00000466610.1:n.*188_*192dup
NM_000455.4:c.363_367dup , LRG_319t1:c.363_367dup	NP_000446.1:p.Gln123ArgfsTer8
XM_005259617.1:c.363_367dup	XP_005259674.1:p.Gln123ArgfsTer8
XM_005259618.3:c.363_367dup	XP_005259675.1:p.Gln123ArgfsTer8
XM_011528209.1:c.141_145dup	XP_011526511.1:p.Gln49ArgfsTer8
XR_936204.1:n.988_992dup
XM_005259617.3:c.363_367dup	XP_005259674.1:p.Gln123ArgfsTer8
XM_011528209.2:c.141_145dup	XP_011526511.1:p.Gln49ArgfsTer8
XR_001753738.2:n.988_992dup
XR_001753739.1:n.988_992dup
XR_001753740.2:n.988_992dup
NM_000455.5:c.363_367dup MANE Select	NP_000446.1:p.Gln123ArgfsTer8