Canonical Allele Identifier: CA10581013

Gene: STK11

Linked Data

• ClinVar Variation Id: 233220
• ClinVar RCV Id: RCV000213140 ; RCV001044009 ; RCV003477758 ; RCV003462518
• dbSNP Id: rs876660268
• gnomAD v3: 19-1223030-CCCA-C
• gnomAD v4: 19-1223030-CCCA-C
• MyVariant Identifiers: chr19:g.1223032_1223034del (hg19) ; chr19:g.1223030_1223032del (hg19) ; chr19:g.1223033_1223035del (hg38) ; chr19:g.1223031_1223033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1223033_1223035del , CM000681.2:g.1223033_1223035del	GRCh38
NC_000019.9:g.1223032_1223034del , CM000681.1:g.1223032_1223034del	GRCh37
NC_000019.8:g.1174032_1174034del	NCBI36
NG_007460.2:g.38627_38629del , LRG_319:g.38627_38629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.969_971del	ENSP00000490268.2:p.Pro324del
ENST00000585748.3:c.597_599del	ENSP00000477641.2:p.Pro200del
ENST00000585851.2:c.795_797del	ENSP00000467912.2:p.Pro266del
ENST00000326873.12:c.969_971del MANE Select	ENSP00000324856.6:p.Pro324del
ENST00000652231.1:c.969_971del	ENSP00000498804.1:p.Pro324del
ENST00000326873.11:c.969_971del	ENSP00000324856.6:p.Pro324del
ENST00000586243.5:c.969_971del	ENSP00000467240.2:p.Pro324del
ENST00000589152.5:n.1667_1669del
ENST00000591133.2:n.940_942del
NM_000455.4:c.969_971del , LRG_319t1:c.969_971del	NP_000446.1:p.Pro324del
XM_005259617.1:c.969_971del	XP_005259674.1:p.Pro324del
XM_005259618.3:c.969_971del	XP_005259675.1:p.Pro324del
XM_011528209.1:c.747_749del	XP_011526511.1:p.Pro250del
XR_936204.1:n.1745_1747del
XM_005259617.3:c.969_971del	XP_005259674.1:p.Pro324del
XM_011528209.2:c.747_749del	XP_011526511.1:p.Pro250del
XR_001753738.2:n.1775_1777del
XR_001753739.1:n.1775_1777del
XR_001753740.2:n.1745_1747del
NM_000455.5:c.969_971del MANE Select	NP_000446.1:p.Pro324del