Canonical Allele Identifier: CA049370

Gene: STK11

Linked Data

• ClinVar Variation Id: 420387
• ClinVar RCV Id: RCV000483886 ; RCV001018110 ; RCV001537796 ; RCV000704310 ; RCV001824797
• dbSNP Id: rs764739106
• ExAC: 19:1221939 TCTC / T
• gnomAD v3: 19-1221940-TCTC-T
• gnomAD v4: 19-1221940-TCTC-T
• MyVariant Identifiers: chr19:g.1221943_1221945del (hg19) ; chr19:g.1221940_1221942del (hg19) ; chr19:g.1221944_1221946del (hg38) ; chr19:g.1221941_1221943del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1221944_1221946del , CM000681.2:g.1221944_1221946del	GRCh38
NC_000019.9:g.1221943_1221945del , CM000681.1:g.1221943_1221945del	GRCh37
NC_000019.8:g.1172943_1172945del	NCBI36
NG_007460.2:g.37538_37540del , LRG_319:g.37538_37540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585465.3:c.863-5_863-3del	ENSP00000490268.2:n.863-5_863-3del
ENST00000585748.3:c.491-5_491-3del	ENSP00000477641.2:n.491-5_491-3del
ENST00000585851.2:c.689-5_689-3del	ENSP00000467912.2:n.689-5_689-3del
ENST00000326873.12:c.863-5_863-3del MANE Select	ENSP00000324856.6:n.863-5_863-3del
ENST00000652231.1:c.863-5_863-3del	ENSP00000498804.1:n.863-5_863-3del
ENST00000326873.11:c.863-5_863-3del	ENSP00000324856.6:n.863-5_863-3del
ENST00000586243.5:c.863-5_863-3del	ENSP00000467240.2:n.863-5_863-3del
ENST00000586358.5:n.761-5_761-3del
ENST00000589152.5:n.1556_1558del
ENST00000591133.2:n.834-5_834-3del
NM_000455.4:c.863-5_863-3del , LRG_319t1:c.863-5_863-3del	NP_000446.1:n.863-5_863-3del
XM_005259617.1:c.863-5_863-3del	XP_005259674.1:n.863-5_863-3del
XM_005259618.3:c.863-5_863-3del	XP_005259675.1:n.863-5_863-3del
XM_011528209.1:c.641-5_641-3del	XP_011526511.1:n.641-5_641-3del
XR_936204.1:n.1639-5_1639-3del
XM_005259617.3:c.863-5_863-3del	XP_005259674.1:n.863-5_863-3del
XM_011528209.2:c.641-5_641-3del	XP_011526511.1:n.641-5_641-3del
XR_001753738.2:n.1669-5_1669-3del
XR_001753739.1:n.1669-5_1669-3del
XR_001753740.2:n.1639-5_1639-3del
NM_000455.5:c.863-5_863-3del MANE Select	NP_000446.1:n.863-5_863-3del