Canonical Allele Identifier: CA1139666163

Gene: STK11

Linked Data

• ClinVar Variation Id: 959965
• ClinVar RCV Id: RCV001233405 ; RCV004033201
• dbSNP Id: rs1555740288
• gnomAD v4: 19-1226629-GGCCTGCAAGCAGCAGTGAGGCTGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226637_1226662del , CM000681.2:g.1226637_1226662del	GRCh38
NC_000019.9:g.1226636_1226661del , CM000681.1:g.1226636_1226661del	GRCh37
NC_000019.8:g.1177636_1177661del	NCBI36
NG_007460.2:g.42231_42256del , LRG_319:g.42231_42256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2893_*2918del	ENSP00000490268.2:n.*2893_*2918del
ENST00000585748.3:c.920_*15del	ENSP00000477641.2:n.[c.920_*15del;Lys307SerfsTer?]
ENST00000585851.2:c.1118_*15del	ENSP00000467912.2:n.[c.1118_*15del;Lys373SerfsTer?]
ENST00000326873.12:c.1292_*15del MANE Select	ENSP00000324856.6:n.[c.1292_*15del;Lys431SerfsTer?]
ENST00000326873.11:c.1292_*15del	ENSP00000324856.6:n.[c.1292_*15del;Lys431SerfsTer?]
ENST00000585465.2:n.3025_3050del
ENST00000586243.5:c.1289_*15del	ENSP00000467240.2:n.[c.1289_*15del;Lys430SerfsTer?]
ENST00000589152.5:n.1990_2015del
NM_000455.4:c.1292_*15del , LRG_319t1:c.1292_*15del	NP_000446.1:n.[c.1292_*15del;Lys431SerfsTer?]
XM_005259617.1:c.1287_1312del	XP_005259674.1:p.Ala430ProfsTer?
XM_011528209.1:c.1065_1090del	XP_011526511.1:p.Ala356ProfsTer?
XM_005259617.3:c.1287_1312del	XP_005259674.1:p.Ala430ProfsTer?
XM_011528209.2:c.1065_1090del	XP_011526511.1:p.Ala356ProfsTer?
XR_001753738.2:n.2098_2123del
XR_001753740.2:n.2068_2093del
NM_000455.5:c.1292_*15del MANE Select	NP_000446.1:n.[c.1292_*15del;Lys431SerfsTer?]