Canonical Allele Identifier: CA047862

Gene: STK11

Linked Data

• ClinVar Variation Id: 548867
• ClinVar RCV Id: RCV000663076 ; RCV000771626 ; RCV001692256
• dbSNP Id: rs749644491
• ExAC: 19:1220354 GGT / G
• gnomAD v2: 19-1220354-GGT-G
• gnomAD v3: 19-1220355-GGT-G
• gnomAD v4: 19-1220355-GGT-G
• MyVariant Identifiers: chr19:g.1220360_1220361del (hg19) ; chr19:g.1220355_1220356del (hg19) ; chr19:g.1220361_1220362del (hg38) ; chr19:g.1220356_1220357del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1220361_1220362del , CM000681.2:g.1220361_1220362del	GRCh38
NC_000019.9:g.1220360_1220361del , CM000681.1:g.1220360_1220361del	GRCh37
NC_000019.8:g.1171360_1171361del	NCBI36
NG_007460.2:g.35955_35956del , LRG_319:g.35955_35956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.465-12_465-11del	ENSP00000490268.2:n.465-12_465-11del
ENST00000585748.3:c.93-12_93-11del	ENSP00000477641.2:n.93-12_93-11del
ENST00000585851.2:c.291-12_291-11del	ENSP00000467912.2:n.291-12_291-11del
ENST00000326873.12:c.465-12_465-11del MANE Select	ENSP00000324856.6:n.465-12_465-11del
ENST00000652231.1:c.465-12_465-11del	ENSP00000498804.1:n.465-12_465-11del
ENST00000326873.11:c.465-12_465-11del	ENSP00000324856.6:n.465-12_465-11del
ENST00000585851.1:c.291-12_291-11del	ENSP00000467912.1:n.291-12_291-11del
ENST00000586243.5:c.465-12_465-11del	ENSP00000467240.2:n.465-12_465-11del
ENST00000586358.5:n.288-12_288-11del
ENST00000589152.5:n.555-12_555-11del
ENST00000591133.2:n.349_350del
NM_000455.4:c.465-12_465-11del , LRG_319t1:c.465-12_465-11del	NP_000446.1:n.465-12_465-11del
XM_005259617.1:c.465-12_465-11del	XP_005259674.1:n.465-12_465-11del
XM_005259618.3:c.465-12_465-11del	XP_005259675.1:n.465-12_465-11del
XM_011528209.1:c.243-12_243-11del	XP_011526511.1:n.243-12_243-11del
XR_936204.1:n.1090-12_1090-11del
XM_005259617.3:c.465-12_465-11del	XP_005259674.1:n.465-12_465-11del
XM_011528209.2:c.243-12_243-11del	XP_011526511.1:n.243-12_243-11del
XR_001753738.2:n.1090-12_1090-11del
XR_001753739.1:n.1090-12_1090-11del
XR_001753740.2:n.1090-12_1090-11del
NM_000455.5:c.465-12_465-11del MANE Select	NP_000446.1:n.465-12_465-11del