Canonical Allele Identifier: CA6668753

Gene: TBK1

Linked Data

• ClinVar Variation Id: 403521
• ClinVar RCV Id: RCV000455230 ; RCV000625058 ; RCV001653816 ; RCV001515857
• dbSNP Id: rs57810028
• ExAC: 12:64858100 A / AT
• gnomAD v2: 12-64858100-A-AT
• gnomAD v3: 12-64464320-A-AT
• gnomAD v4: 12-64464320-A-AT
• MyVariant Identifiers: chr12:g.64858110dupT (hg19) ; chr12:g.64858101_64858102insT (hg19) ; chr12:g.64858100_64858101insT (hg19) ; chr12:g.64464330dupT (hg38) ; chr12:g.64464320_64464321insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.64464330dup , CM000674.2:g.64464330dup	GRCh38
NC_000012.11:g.64858110dup , CM000674.1:g.64858110dup	GRCh37
NC_000012.10:g.63144377dup	NCBI36
NG_046906.1:g.17271dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331710.10:c.229-4dup MANE Select	ENSP00000329967.5:n.229-4dup
ENST00000650708.1:c.105-4dup
ENST00000650762.1:c.73-4dup	ENSP00000498758.1:n.73-4dup
ENST00000650786.1:c.*374-4dup	ENSP00000498280.1:n.*374-4dup
ENST00000650790.1:c.229-4dup	ENSP00000498995.1:n.229-4dup
ENST00000650997.1:c.229-4dup	ENSP00000498341.1:n.229-4dup
ENST00000651014.1:c.73-4dup	ENSP00000498885.1:n.73-4dup
ENST00000651262.1:c.229-4dup	ENSP00000498461.1:n.229-4dup
ENST00000651878.1:c.229-4dup	ENSP00000499077.1:n.229-4dup
ENST00000651947.1:n.317-4dup
ENST00000652389.1:c.229-4dup	ENSP00000498414.1:n.229-4dup
ENST00000652537.1:c.229-4dup	ENSP00000499102.1:n.229-4dup
ENST00000652657.1:c.229-4dup	ENSP00000498887.1:n.229-4dup
ENST00000676469.1:c.88-4dup	ENSP00000503155.1:n.88-4dup
ENST00000676551.1:n.328-4dup
ENST00000676654.1:n.358-4dup
ENST00000676684.1:n.358-4dup
ENST00000676809.1:c.229-4dup	ENSP00000504298.1:n.229-4dup
ENST00000676901.1:n.103-4dup
ENST00000676912.1:c.73-4dup	ENSP00000503567.1:n.73-4dup
ENST00000676930.1:c.229-4dup	ENSP00000502899.1:n.229-4dup
ENST00000677499.1:c.229-4dup	ENSP00000502875.1:n.229-4dup
ENST00000677549.1:n.291-4dup
ENST00000677632.1:c.229-4dup	ENSP00000504586.1:n.229-4dup
ENST00000677641.1:c.229-4dup	ENSP00000504637.1:n.229-4dup
ENST00000677686.1:n.332-4dup
ENST00000677831.1:c.229-4dup	ENSP00000503760.1:n.229-4dup
ENST00000678180.1:c.229-4dup	ENSP00000504132.1:n.229-4dup
ENST00000678197.1:n.213-4dup
ENST00000678430.1:n.328-4dup
ENST00000679050.1:c.191-4dup	ENSP00000503595.1:n.191-4dup
ENST00000331710.9:c.229-4dup	ENSP00000329967.5:n.229-4dup
ENST00000538890.5:c.229-4dup	ENSP00000445834.1:n.229-4dup
ENST00000539810.1:c.73-4dup	ENSP00000444428.1:n.73-4dup
ENST00000540417.1:c.229-4dup	ENSP00000445628.1:n.229-4dup
NM_013254.3:c.229-4dup	NP_037386.1:n.229-4dup
XM_005268809.1:c.229-4dup	XP_005268866.1:n.229-4dup
XM_005268810.1:c.229-4dup	XP_005268867.1:n.229-4dup
XR_944524.1:n.388-4dup
XR_944525.1:n.388-4dup
XR_001748674.2:n.343-4dup
NM_013254.4:c.229-4dup MANE Select	NP_037386.1:n.229-4dup