Canonical Allele Identifier: CA3035085

Gene: TBCK

Linked Data

• ClinVar Variation Id: 986992
• ClinVar RCV Id: RCV001268187 ; RCV002471074
• dbSNP Id: rs746860249
• ExAC: 4:107156504 G / GT
• gnomAD v2: 4-107156504-G-GT
• gnomAD v3: 4-106235347-G-GT
• gnomAD v4: 4-106235347-G-GT
• COSMIC: COSM1426258
• MyVariant Identifiers: chr4:g.107156505_107156506insT (hg19) ; chr4:g.107156504_107156505insT (hg19) ; chr4:g.106235347_106235348insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106235355dup , CM000666.2:g.106235355dup	GRCh38
NC_000004.11:g.107156512dup , CM000666.1:g.107156512dup	GRCh37
NC_000004.10:g.107375961dup	NCBI36
NG_034057.2:g.91148dup
NG_034057.3:g.86336dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000273980.10:c.1370dup	ENSP00000273980.4:p.Asn457LysfsTer10
ENST00000394708.7:c.1370dup MANE Select	ENSP00000378198.2:p.Asn457LysfsTer10
ENST00000273980.9:c.1370dup	ENSP00000273980.4:p.Asn457LysfsTer10
ENST00000361687.8:c.1181dup	ENSP00000355338.4:p.Asn394LysfsTer10
ENST00000394706.7:c.1253dup	ENSP00000378196.3:p.Asn418LysfsTer10
ENST00000394708.6:c.1370dup	ENSP00000378198.2:p.Asn457LysfsTer10
ENST00000432496.6:c.1370dup	ENSP00000405847.2:p.Asn457LysfsTer10
ENST00000467183.6:c.*1009dup	ENSP00000421182.1:n.*1009dup
ENST00000503516.1:c.-41dup	ENSP00000423834.1:n.-41dup
ENST00000508666.5:c.634dup
ENST00000510927.5:n.1023dup
NM_001163435.2:c.1370dup	NP_001156907.1:p.Asn457LysfsTer10
NM_001163436.2:c.1370dup	NP_001156908.1:p.Asn457LysfsTer10
NM_001163437.2:c.1253dup	NP_001156909.1:p.Asn418LysfsTer10
NM_001290768.1:c.854dup	NP_001277697.1:p.Asn285LysfsTer10
NM_033115.4:c.1181dup	NP_149106.2:p.Asn394LysfsTer10
XM_006714419.2:c.1370dup	XP_006714482.1:p.Asn457LysfsTer10
XM_011532417.1:c.1370dup	XP_011530719.1:p.Asn457LysfsTer10
XM_011532418.1:c.1052dup	XP_011530720.1:p.Asn351LysfsTer10
XM_011532419.1:c.854dup	XP_011530721.1:p.Asn285LysfsTer10
XR_938800.1:n.1399dup
XM_011532417.2:c.1370dup	XP_011530719.1:p.Asn457LysfsTer10
XM_017008846.1:c.1370dup	XP_016864335.1:p.Asn457LysfsTer10
XM_017008847.2:c.1370dup	XP_016864336.1:p.Asn457LysfsTer10
XM_017008848.1:c.1052dup	XP_016864337.1:p.Asn351LysfsTer10
XM_017008849.1:c.854dup	XP_016864338.1:p.Asn285LysfsTer10
XM_024454281.1:c.1370dup	XP_024310049.1:p.Asn457LysfsTer10
XM_024454282.1:c.1370dup	XP_024310050.1:p.Asn457LysfsTer10
XR_001741353.2:n.1710dup
XR_001741354.2:n.1307dup
XR_002959772.1:n.1494dup
XR_938800.3:n.1710dup
NM_001163435.3:c.1370dup MANE Select	NP_001156907.2:p.Asn457LysfsTer10
NM_001163436.4:c.1370dup	NP_001156908.2:p.Asn457LysfsTer10
NM_001163437.3:c.1253dup	NP_001156909.2:p.Asn418LysfsTer10
NM_001290768.2:c.854dup	NP_001277697.2:p.Asn285LysfsTer10
NM_033115.5:c.1181dup	NP_149106.3:p.Asn394LysfsTer10