Canonical Allele Identifier: CA049639

Gene: STK11

Linked Data

• ClinVar Variation Id: 492566
• ClinVar RCV Id: RCV000583354 ; RCV000614508 ; RCV002065120
• dbSNP Id: rs752464256
• ExAC: 19:1222964 CTGCT / C
• gnomAD v2: 19-1222964-CTGCT-C
• gnomAD v3: 19-1222965-CTGCT-C
• gnomAD v4: 19-1222965-CTGCT-C
• MyVariant Identifiers: chr19:g.1222966_1222969del (hg19) ; chr19:g.1222965_1222968del (hg19) ; chr19:g.1222967_1222970del (hg38) ; chr19:g.1222966_1222969del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1222967_1222970del , CM000681.2:g.1222967_1222970del	GRCh38
NC_000019.9:g.1222966_1222969del , CM000681.1:g.1222966_1222969del	GRCh37
NC_000019.8:g.1173966_1173969del	NCBI36
NG_007460.2:g.38561_38564del , LRG_319:g.38561_38564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.921-18_921-15del	ENSP00000490268.2:n.921-18_921-15del
ENST00000585748.3:c.549-18_549-15del	ENSP00000477641.2:n.549-18_549-15del
ENST00000585851.2:c.747-18_747-15del	ENSP00000467912.2:n.747-18_747-15del
ENST00000326873.12:c.921-18_921-15del MANE Select	ENSP00000324856.6:n.921-18_921-15del
ENST00000652231.1:c.921-18_921-15del	ENSP00000498804.1:n.921-18_921-15del
ENST00000326873.11:c.921-18_921-15del	ENSP00000324856.6:n.921-18_921-15del
ENST00000586243.5:c.921-18_921-15del	ENSP00000467240.2:n.921-18_921-15del
ENST00000589152.5:n.1619-18_1619-15del
ENST00000591133.2:n.892-18_892-15del
NM_000455.4:c.921-18_921-15del , LRG_319t1:c.921-18_921-15del	NP_000446.1:n.921-18_921-15del
XM_005259617.1:c.921-18_921-15del	XP_005259674.1:n.921-18_921-15del
XM_005259618.3:c.921-18_921-15del	XP_005259675.1:n.921-18_921-15del
XM_011528209.1:c.699-18_699-15del	XP_011526511.1:n.699-18_699-15del
XR_936204.1:n.1697-18_1697-15del
XM_005259617.3:c.921-18_921-15del	XP_005259674.1:n.921-18_921-15del
XM_011528209.2:c.699-18_699-15del	XP_011526511.1:n.699-18_699-15del
XR_001753738.2:n.1727-18_1727-15del
XR_001753739.1:n.1727-18_1727-15del
XR_001753740.2:n.1697-18_1697-15del
NM_000455.5:c.921-18_921-15del MANE Select	NP_000446.1:n.921-18_921-15del