Canonical Allele Identifier: CA9039459

Gene: STK11

Linked Data

• ClinVar Variation Id: 403761
• ClinVar RCV Id: RCV000469680 ; RCV001284237 ; RCV001017134
• dbSNP Id: rs762810203
• ExAC: 19:1223103 CGGACGA / C
• gnomAD v2: 19-1223103-CGGACGA-C
• gnomAD v3: 19-1223104-CGGACGA-C
• gnomAD v4: 19-1223104-CGGACGA-C
• MyVariant Identifiers: chr19:g.1223114_1223119del (hg19) ; chr19:g.1223104_1223109del (hg19) ; chr19:g.1223115_1223120del (hg38) ; chr19:g.1223105_1223110del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223115_1223120del , CM000681.2:g.1223115_1223120del	GRCh38
NC_000019.9:g.1223114_1223119del , CM000681.1:g.1223114_1223119del	GRCh37
NC_000019.8:g.1174114_1174119del	NCBI36
NG_007460.2:g.38709_38714del , LRG_319:g.38709_38714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1051_1056del	ENSP00000490268.2:p.Glu351_Asp352del
ENST00000585748.3:c.679_684del	ENSP00000477641.2:p.Glu227_Asp228del
ENST00000585851.2:c.877_882del	ENSP00000467912.2:p.Glu293_Asp294del
ENST00000326873.12:c.1051_1056del MANE Select	ENSP00000324856.6:p.Glu351_Asp352del
ENST00000652231.1:c.1051_1056del	ENSP00000498804.1:p.Glu351_Asp352del
ENST00000326873.11:c.1051_1056del	ENSP00000324856.6:p.Glu351_Asp352del
ENST00000586243.5:c.1051_1056del	ENSP00000467240.2:p.Glu351_Asp352del
ENST00000589152.5:n.1749_1754del
NM_000455.4:c.1051_1056del , LRG_319t1:c.1051_1056del	NP_000446.1:p.Glu351_Asp352del
XM_005259617.1:c.1051_1056del	XP_005259674.1:p.Glu351_Asp352del
XM_005259618.3:c.1051_1056del	XP_005259675.1:p.Glu351_Asp352del
XM_011528209.1:c.829_834del	XP_011526511.1:p.Glu277_Asp278del
XR_936204.1:n.1827_1832del
XM_005259617.3:c.1051_1056del	XP_005259674.1:p.Glu351_Asp352del
XM_011528209.2:c.829_834del	XP_011526511.1:p.Glu277_Asp278del
XR_001753738.2:n.1857_1862del
XR_001753739.1:n.1857_1862del
XR_001753740.2:n.1827_1832del
NM_000455.5:c.1051_1056del MANE Select	NP_000446.1:p.Glu351_Asp352del