Canonical Allele Identifier: CA1139666162

Gene: STK11

Linked Data

• ClinVar Variation Id: 944573
• ClinVar RCV Id: RCV001214999 ; RCV002393500
• dbSNP Id: rs2080797182
• gnomAD v4: 19-1223101-GCGCGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223104_1223109del , CM000681.2:g.1223104_1223109del	GRCh38
NC_000019.9:g.1223103_1223108del , CM000681.1:g.1223103_1223108del	GRCh37
NC_000019.8:g.1174103_1174108del	NCBI36
NG_007460.2:g.38698_38703del , LRG_319:g.38698_38703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1040_1045del	ENSP00000490268.2:p.Ala347_Asp348del
ENST00000585748.3:c.668_673del	ENSP00000477641.2:p.Ala223_Asp224del
ENST00000585851.2:c.866_871del	ENSP00000467912.2:p.Ala289_Asp290del
ENST00000326873.12:c.1040_1045del MANE Select	ENSP00000324856.6:p.Ala347_Asp348del
ENST00000652231.1:c.1040_1045del	ENSP00000498804.1:p.Ala347_Asp348del
ENST00000326873.11:c.1040_1045del	ENSP00000324856.6:p.Ala347_Asp348del
ENST00000586243.5:c.1040_1045del	ENSP00000467240.2:p.Ala347_Asp348del
ENST00000589152.5:n.1738_1743del
NM_000455.4:c.1040_1045del , LRG_319t1:c.1040_1045del	NP_000446.1:p.Ala347_Asp348del
XM_005259617.1:c.1040_1045del	XP_005259674.1:p.Ala347_Asp348del
XM_005259618.3:c.1040_1045del	XP_005259675.1:p.Ala347_Asp348del
XM_011528209.1:c.818_823del	XP_011526511.1:p.Ala273_Asp274del
XR_936204.1:n.1816_1821del
XM_005259617.3:c.1040_1045del	XP_005259674.1:p.Ala347_Asp348del
XM_011528209.2:c.818_823del	XP_011526511.1:p.Ala273_Asp274del
XR_001753738.2:n.1846_1851del
XR_001753739.1:n.1846_1851del
XR_001753740.2:n.1816_1821del
NM_000455.5:c.1040_1045del MANE Select	NP_000446.1:p.Ala347_Asp348del