Canonical Allele Identifier: CA16616015

Gene: STK11

Linked Data

• ClinVar Variation Id: 403793
• ClinVar RCV Id: RCV000472798 ; RCV000579444 ; RCV001800673
• dbSNP Id: rs1060499969
• gnomAD v3: 19-1223099-CGGCGCG-C
• gnomAD v4: 19-1223099-CGGCGCG-C
• MyVariant Identifiers: chr19:g.1223100_1223105del (hg19) ; chr19:g.1223099_1223104del (hg19) ; chr19:g.1223101_1223106del (hg38) ; chr19:g.1223100_1223105del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223101_1223106del , CM000681.2:g.1223101_1223106del	GRCh38
NC_000019.9:g.1223100_1223105del , CM000681.1:g.1223100_1223105del	GRCh37
NC_000019.8:g.1174100_1174105del	NCBI36
NG_007460.2:g.38695_38700del , LRG_319:g.38695_38700del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.1037_1042del	ENSP00000490268.2:p.Gly346_Ala347del
ENST00000585748.3:c.665_670del	ENSP00000477641.2:p.Gly222_Ala223del
ENST00000585851.2:c.863_868del	ENSP00000467912.2:p.Gly288_Ala289del
ENST00000326873.12:c.1037_1042del MANE Select	ENSP00000324856.6:p.Gly346_Ala347del
ENST00000652231.1:c.1037_1042del	ENSP00000498804.1:p.Gly346_Ala347del
ENST00000326873.11:c.1037_1042del	ENSP00000324856.6:p.Gly346_Ala347del
ENST00000586243.5:c.1037_1042del	ENSP00000467240.2:p.Gly346_Ala347del
ENST00000589152.5:n.1735_1740del
NM_000455.4:c.1037_1042del , LRG_319t1:c.1037_1042del	NP_000446.1:p.Gly346_Ala347del
XM_005259617.1:c.1037_1042del	XP_005259674.1:p.Gly346_Ala347del
XM_005259618.3:c.1037_1042del	XP_005259675.1:p.Gly346_Ala347del
XM_011528209.1:c.815_820del	XP_011526511.1:p.Gly272_Ala273del
XR_936204.1:n.1813_1818del
XM_005259617.3:c.1037_1042del	XP_005259674.1:p.Gly346_Ala347del
XM_011528209.2:c.815_820del	XP_011526511.1:p.Gly272_Ala273del
XR_001753738.2:n.1843_1848del
XR_001753739.1:n.1843_1848del
XR_001753740.2:n.1813_1818del
NM_000455.5:c.1037_1042del MANE Select	NP_000446.1:p.Gly346_Ala347del