Canonical Allele Identifier: CA2671665593

Gene: TBCK

Linked Data

• gnomAD v4: 4-106235347-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106235347_106235348insC , CM000666.2:g.106235347_106235348insC	GRCh38
NC_000004.11:g.107156504_107156505insC , CM000666.1:g.107156504_107156505insC	GRCh37
NC_000004.10:g.107375953_107375954insC	NCBI36
NG_034057.2:g.91148_91149insG
NG_034057.3:g.86336_86337insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273980.10:c.1370_1371insG	ENSP00000273980.4:p.Asn457LysfsTer10
ENST00000394708.7:c.1370_1371insG MANE Select	ENSP00000378198.2:p.Asn457LysfsTer10
ENST00000273980.9:c.1370_1371insG	ENSP00000273980.4:p.Asn457LysfsTer10
ENST00000361687.8:c.1181_1182insG	ENSP00000355338.4:p.Asn394LysfsTer10
ENST00000394706.7:c.1253_1254insG	ENSP00000378196.3:p.Asn418LysfsTer10
ENST00000394708.6:c.1370_1371insG	ENSP00000378198.2:p.Asn457LysfsTer10
ENST00000432496.6:c.1370_1371insG	ENSP00000405847.2:p.Asn457LysfsTer10
ENST00000467183.6:c.*1009_*1010insG	ENSP00000421182.1:n.*1009_*1010insG
ENST00000503516.1:c.-41_-40insG	ENSP00000423834.1:n.-41_-40insG
ENST00000508666.5:c.634_635insG
ENST00000510927.5:n.1023_1024insG
NM_001163435.2:c.1370_1371insG	NP_001156907.1:p.Asn457LysfsTer10
NM_001163436.2:c.1370_1371insG	NP_001156908.1:p.Asn457LysfsTer10
NM_001163437.2:c.1253_1254insG	NP_001156909.1:p.Asn418LysfsTer10
NM_001290768.1:c.854_855insG	NP_001277697.1:p.Asn285LysfsTer10
NM_033115.4:c.1181_1182insG	NP_149106.2:p.Asn394LysfsTer10
XM_006714419.2:c.1370_1371insG	XP_006714482.1:p.Asn457LysfsTer10
XM_011532417.1:c.1370_1371insG	XP_011530719.1:p.Asn457LysfsTer10
XM_011532418.1:c.1052_1053insG	XP_011530720.1:p.Asn351LysfsTer10
XM_011532419.1:c.854_855insG	XP_011530721.1:p.Asn285LysfsTer10
XR_938800.1:n.1399_1400insG
XM_011532417.2:c.1370_1371insG	XP_011530719.1:p.Asn457LysfsTer10
XM_017008846.1:c.1370_1371insG	XP_016864335.1:p.Asn457LysfsTer10
XM_017008847.2:c.1370_1371insG	XP_016864336.1:p.Asn457LysfsTer10
XM_017008848.1:c.1052_1053insG	XP_016864337.1:p.Asn351LysfsTer10
XM_017008849.1:c.854_855insG	XP_016864338.1:p.Asn285LysfsTer10
XM_024454281.1:c.1370_1371insG	XP_024310049.1:p.Asn457LysfsTer10
XM_024454282.1:c.1370_1371insG	XP_024310050.1:p.Asn457LysfsTer10
XR_001741353.2:n.1710_1711insG
XR_001741354.2:n.1307_1308insG
XR_002959772.1:n.1494_1495insG
XR_938800.3:n.1710_1711insG
NM_001163435.3:c.1370_1371insG MANE Select	NP_001156907.2:p.Asn457LysfsTer10
NM_001163436.4:c.1370_1371insG	NP_001156908.2:p.Asn457LysfsTer10
NM_001163437.3:c.1253_1254insG	NP_001156909.2:p.Asn418LysfsTer10
NM_001290768.2:c.854_855insG	NP_001277697.2:p.Asn285LysfsTer10
NM_033115.5:c.1181_1182insG	NP_149106.3:p.Asn394LysfsTer10