Canonical Allele Identifier: CA631034277

Gene: STK11

Linked Data

• ClinVar Variation Id: 485005
• ClinVar RCV Id: RCV000562182
• dbSNP Id: rs1555740288
• gnomAD v2: 19-1226628-G-GGCCTGCAAGCAGCAGTGAGGCTGGCC
• gnomAD v4: 19-1226629-G-GGCCTGCAAGCAGCAGTGAGGCTGGCC
• MyVariant Identifiers: chr19:g.1226636_1226661dup (hg19) ; chr19:g.1226628_1226629insGCCTGCAAGCAGCAGTGAGGCTGGCC (hg19) ; chr19:g.1226637_1226662dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226637_1226662dup , CM000681.2:g.1226637_1226662dup	GRCh38
NC_000019.9:g.1226636_1226661dup , CM000681.1:g.1226636_1226661dup	GRCh37
NC_000019.8:g.1177636_1177661dup	NCBI36
NG_007460.2:g.42231_42256dup , LRG_319:g.42231_42256dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000585465.3:c.*2893_*2918dup	ENSP00000490268.2:n.*2893_*2918dup
ENST00000585748.3:c.920_*15dup	ENSP00000477641.2:n.920_*15dup
ENST00000585851.2:c.1118_*15dup	ENSP00000467912.2:n.1118_*15dup
ENST00000326873.12:c.1292_*15dup MANE Select	ENSP00000324856.6:n.1292_*15dup
ENST00000326873.11:c.1292_*15dup	ENSP00000324856.6:n.1292_*15dup
ENST00000585465.2:n.3025_3050dup
ENST00000586243.5:c.1289_*15dup	ENSP00000467240.2:n.1289_*15dup
ENST00000589152.5:n.1990_2015dup
NM_000455.4:c.1292_*15dup , LRG_319t1:c.1292_*15dup	NP_000446.1:n.1292_*15dup
XM_005259617.1:c.1287_1312dup	XP_005259674.1:p.Ser438LysfsTer4
XM_011528209.1:c.1065_1090dup	XP_011526511.1:p.Ser364LysfsTer4
XM_005259617.3:c.1287_1312dup	XP_005259674.1:p.Ser438LysfsTer4
XM_011528209.2:c.1065_1090dup	XP_011526511.1:p.Ser364LysfsTer4
XR_001753738.2:n.2098_2123dup
XR_001753740.2:n.2068_2093dup
NM_000455.5:c.1292_*15dup MANE Select	NP_000446.1:n.1292_*15dup