Canonical Allele Identifier: CA358417

Gene: TBCK

Linked Data

• ClinVar Variation Id: 225241
• ClinVar RCV Id: RCV000210867
• dbSNP Id: rs746860249
• ExAC: 4:107156504 GT / G
• gnomAD v4: 4-106235347-GT-G
• COSMIC: COSM20443 ; COSM1426259
• MyVariant Identifiers: chr4:g.107156512del (hg19) ; chr4:g.107156505del (hg19) ; chr4:g.106235348del (hg38)
• PubMed: PMID:27040691

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000273980.10:c.1370del	ENSP00000273980.4:p.Asn457ThrfsTer15
ENST00000394708.7:c.1370del MANE Select	ENSP00000378198.2:p.Asn457ThrfsTer15
ENST00000273980.9:c.1370del	ENSP00000273980.4:p.Asn457ThrfsTer15
ENST00000361687.8:c.1181del	ENSP00000355338.4:p.Asn394ThrfsTer15
ENST00000394706.7:c.1253del	ENSP00000378196.3:p.Asn418ThrfsTer15
ENST00000394708.6:c.1370del	ENSP00000378198.2:p.Asn457ThrfsTer15
ENST00000432496.6:c.1370del	ENSP00000405847.2:p.Asn457ThrfsTer15
ENST00000467183.6:c.*1009del	ENSP00000421182.1:n.*1009del
ENST00000503516.1:c.-41del	ENSP00000423834.1:n.-41del
ENST00000508666.5:c.634del
ENST00000510927.5:n.1023del
NM_001163435.2:c.1370del	NP_001156907.1:p.Asn457ThrfsTer15
NM_001163436.2:c.1370del	NP_001156908.1:p.Asn457ThrfsTer15
NM_001163437.2:c.1253del	NP_001156909.1:p.Asn418ThrfsTer15
NM_001290768.1:c.854del	NP_001277697.1:p.Asn285ThrfsTer15
NM_033115.4:c.1181del	NP_149106.2:p.Asn394ThrfsTer15
XM_006714419.2:c.1370del	XP_006714482.1:p.Asn457ThrfsTer15
XM_011532417.1:c.1370del	XP_011530719.1:p.Asn457ThrfsTer15
XM_011532418.1:c.1052del	XP_011530720.1:p.Asn351ThrfsTer15
XM_011532419.1:c.854del	XP_011530721.1:p.Asn285ThrfsTer15
XR_938800.1:n.1399del
XM_011532417.2:c.1370del	XP_011530719.1:p.Asn457ThrfsTer15
XM_017008846.1:c.1370del	XP_016864335.1:p.Asn457ThrfsTer15
XM_017008847.2:c.1370del	XP_016864336.1:p.Asn457ThrfsTer15
XM_017008848.1:c.1052del	XP_016864337.1:p.Asn351ThrfsTer15
XM_017008849.1:c.854del	XP_016864338.1:p.Asn285ThrfsTer15
XM_024454281.1:c.1370del	XP_024310049.1:p.Asn457ThrfsTer15
XM_024454282.1:c.1370del	XP_024310050.1:p.Asn457ThrfsTer15
XR_001741353.2:n.1710del
XR_001741354.2:n.1307del
XR_002959772.1:n.1494del
XR_938800.3:n.1710del
NM_001163435.3:c.1370del MANE Select	NP_001156907.2:p.Asn457ThrfsTer15
NM_001163436.4:c.1370del	NP_001156908.2:p.Asn457ThrfsTer15
NM_001163437.3:c.1253del	NP_001156909.2:p.Asn418ThrfsTer15
NM_001290768.2:c.854del	NP_001277697.2:p.Asn285ThrfsTer15
NM_033115.5:c.1181del	NP_149106.3:p.Asn394ThrfsTer15