Canonical Allele Identifier: CA553624637

Gene: TBCK

Linked Data

• dbSNP Id: rs1277950637
• gnomAD v2: 4-107156413-C-CT
• gnomAD v4: 4-106235256-C-CT
• MyVariant Identifiers: chr4:g.107156413_107156414insT (hg19) ; chr4:g.106235256_106235257insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106235262dup , CM000666.2:g.106235262dup	GRCh38
NC_000004.11:g.107156419dup , CM000666.1:g.107156419dup	GRCh37
NC_000004.10:g.107375868dup	NCBI36
NG_034057.2:g.91239dup
NG_034057.3:g.86427dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273980.10:c.1449+12dup	ENSP00000273980.4:n.1449+12dup
ENST00000394708.7:c.1449+12dup MANE Select	ENSP00000378198.2:n.1449+12dup
ENST00000273980.9:c.1449+12dup	ENSP00000273980.4:n.1449+12dup
ENST00000361687.8:c.1260+12dup	ENSP00000355338.4:n.1260+12dup
ENST00000394706.7:c.1332+12dup	ENSP00000378196.3:n.1332+12dup
ENST00000394708.6:c.1449+12dup	ENSP00000378198.2:n.1449+12dup
ENST00000432496.6:c.1449+12dup	ENSP00000405847.2:n.1449+12dup
ENST00000467183.6:c.*1088+12dup	ENSP00000421182.1:n.*1088+12dup
ENST00000503516.1:c.39+12dup	ENSP00000423834.1:n.39+12dup
ENST00000508666.5:c.713+12dup
ENST00000510927.5:n.1102+12dup
NM_001163435.2:c.1449+12dup	NP_001156907.1:n.1449+12dup
NM_001163436.2:c.1449+12dup	NP_001156908.1:n.1449+12dup
NM_001163437.2:c.1332+12dup	NP_001156909.1:n.1332+12dup
NM_001290768.1:c.933+12dup	NP_001277697.1:n.933+12dup
NM_033115.4:c.1260+12dup	NP_149106.2:n.1260+12dup
XM_006714419.2:c.1449+12dup	XP_006714482.1:n.1449+12dup
XM_011532417.1:c.1449+12dup	XP_011530719.1:n.1449+12dup
XM_011532418.1:c.1131+12dup	XP_011530720.1:n.1131+12dup
XM_011532419.1:c.933+12dup	XP_011530721.1:n.933+12dup
XR_938800.1:n.1478+12dup
XM_011532417.2:c.1449+12dup	XP_011530719.1:n.1449+12dup
XM_017008846.1:c.1449+12dup	XP_016864335.1:n.1449+12dup
XM_017008847.2:c.1449+12dup	XP_016864336.1:n.1449+12dup
XM_017008848.1:c.1131+12dup	XP_016864337.1:n.1131+12dup
XM_017008849.1:c.933+12dup	XP_016864338.1:n.933+12dup
XM_024454281.1:c.1449+12dup	XP_024310049.1:n.1449+12dup
XM_024454282.1:c.1449+12dup	XP_024310050.1:n.1449+12dup
XR_001741353.2:n.1789+12dup
XR_001741354.2:n.1386+12dup
XR_002959772.1:n.1573+12dup
XR_938800.3:n.1789+12dup
NM_001163435.3:c.1449+12dup MANE Select	NP_001156907.2:n.1449+12dup
NM_001163436.4:c.1449+12dup	NP_001156908.2:n.1449+12dup
NM_001163437.3:c.1332+12dup	NP_001156909.2:n.1332+12dup
NM_001290768.2:c.933+12dup	NP_001277697.2:n.933+12dup
NM_033115.5:c.1260+12dup	NP_149106.3:n.1260+12dup