Canonical Allele Identifier: CA16620756

Gene: STK11

Linked Data

• ClinVar Variation Id: 422813
• ClinVar RCV Id: RCV000483610 ; RCV001234124 ; RCV001354484 ; RCV003168969
• dbSNP Id: rs762810203
• gnomAD v2: 19-1223103-C-CGGACGA
• gnomAD v4: 19-1223104-C-CGGACGA
• MyVariant Identifiers: chr19:g.1223108_1223113dupGAGGAC (hg19) ; chr19:g.1223109_1223110insGGACGA (hg19) ; chr19:g.1223109_1223114dupGAGGAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223115_1223120dup , CM000681.2:g.1223115_1223120dup	GRCh38
NC_000019.9:g.1223114_1223119dup , CM000681.1:g.1223114_1223119dup	GRCh37
NC_000019.8:g.1174114_1174119dup	NCBI36
NG_007460.2:g.38709_38714dup , LRG_319:g.38709_38714dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1051_1056dup	ENSP00000490268.2:p.Asp352_Leu353insGluAsp
ENST00000585748.3:c.679_684dup	ENSP00000477641.2:p.Asp228_Leu229insGluAsp
ENST00000585851.2:c.877_882dup	ENSP00000467912.2:p.Asp294_Leu295insGluAsp
ENST00000326873.12:c.1051_1056dup MANE Select	ENSP00000324856.6:p.Asp352_Leu353insGluAsp
ENST00000652231.1:c.1051_1056dup	ENSP00000498804.1:p.Asp352_Leu353insGluAsp
ENST00000326873.11:c.1051_1056dup	ENSP00000324856.6:p.Asp352_Leu353insGluAsp
ENST00000586243.5:c.1051_1056dup	ENSP00000467240.2:p.Asp352_Leu353insGluAsp
ENST00000589152.5:n.1749_1754dup
NM_000455.4:c.1051_1056dup , LRG_319t1:c.1051_1056dup	NP_000446.1:p.Asp352_Leu353insGluAsp
XM_005259617.1:c.1051_1056dup	XP_005259674.1:p.Asp352_Leu353insGluAsp
XM_005259618.3:c.1051_1056dup	XP_005259675.1:p.Asp352_Leu353insGluAsp
XM_011528209.1:c.829_834dup	XP_011526511.1:p.Asp278_Leu279insGluAsp
XR_936204.1:n.1827_1832dup
XM_005259617.3:c.1051_1056dup	XP_005259674.1:p.Asp352_Leu353insGluAsp
XM_011528209.2:c.829_834dup	XP_011526511.1:p.Asp278_Leu279insGluAsp
XR_001753738.2:n.1857_1862dup
XR_001753739.1:n.1857_1862dup
XR_001753740.2:n.1827_1832dup
NM_000455.5:c.1051_1056dup MANE Select	NP_000446.1:p.Asp352_Leu353insGluAsp