Canonical Allele Identifier: CA022566

Gene: STK11

Linked Data

• ClinVar Variation Id: 142404
• ClinVar RCV Id: RCV000131503 ; RCV000229523 ; RCV000486911
• dbSNP Id: rs587782439
• ExAC: 19:1226603 CCAG / C
• gnomAD v2: 19-1226603-CCAG-C
• gnomAD v3: 19-1226604-CCAG-C
• gnomAD v4: 19-1226604-CCAG-C
• MyVariant Identifiers: chr19:g.1226609_1226611del (hg19) ; chr19:g.1226604_1226606del (hg19) ; chr19:g.1226610_1226612del (hg38) ; chr19:g.1226605_1226607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1226610_1226612del , CM000681.2:g.1226610_1226612del	GRCh38
NC_000019.9:g.1226609_1226611del , CM000681.1:g.1226609_1226611del	GRCh37
NC_000019.8:g.1177609_1177611del	NCBI36
NG_007460.2:g.42204_42206del , LRG_319:g.42204_42206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.*2866_*2868del	ENSP00000490268.2:n.*2866_*2868del
ENST00000585748.3:c.893_895del	ENSP00000477641.2:p.Ser298del
ENST00000585851.2:c.1091_1093del	ENSP00000467912.2:p.Ser364del
ENST00000326873.12:c.1265_1267del MANE Select	ENSP00000324856.6:p.Ser422del
ENST00000326873.11:c.1265_1267del	ENSP00000324856.6:p.Ser422del
ENST00000585465.2:n.2998_3000del
ENST00000586243.5:c.1262_1264del	ENSP00000467240.2:p.Ser421del
ENST00000589152.5:n.1963_1965del
NM_000455.4:c.1265_1267del , LRG_319t1:c.1265_1267del	NP_000446.1:p.Ser422del
XM_005259617.1:c.1260_1262del	XP_005259674.1:p.Gln421del
XM_011528209.1:c.1038_1040del	XP_011526511.1:p.Gln347del
XM_005259617.3:c.1260_1262del	XP_005259674.1:p.Gln421del
XM_011528209.2:c.1038_1040del	XP_011526511.1:p.Gln347del
XR_001753738.2:n.2071_2073del
XR_001753740.2:n.2041_2043del
NM_000455.5:c.1265_1267del MANE Select	NP_000446.1:p.Ser422del