Canonical Allele Identifier: CA2840326173

Gene: TBCK

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.106230423del , CM000666.2:g.106230423del	GRCh38
NC_000004.11:g.107151580del , CM000666.1:g.107151580del	GRCh37
NC_000004.10:g.107371029del	NCBI36
NG_034057.2:g.96073del
NG_034057.3:g.91261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273980.10:c.1714del	ENSP00000273980.4:p.Ala572LeufsTer12
ENST00000394708.7:c.1714del MANE Select	ENSP00000378198.2:p.Ala572LeufsTer12
ENST00000273980.9:c.1714del	ENSP00000273980.4:p.Ala572LeufsTer12
ENST00000361687.8:c.1525del	ENSP00000355338.4:p.Ala509LeufsTer12
ENST00000394706.7:c.1597del	ENSP00000378196.3:p.Ala533LeufsTer12
ENST00000394708.6:c.1714del	ENSP00000378198.2:p.Ala572LeufsTer12
ENST00000432496.6:c.1714del	ENSP00000405847.2:p.Ala572LeufsTer12
ENST00000467183.6:c.*1353del	ENSP00000421182.1:n.*1353del
ENST00000506615.1:n.24del
ENST00000510927.5:n.1367del
NM_001163435.2:c.1714del	NP_001156907.1:p.Ala572LeufsTer12
NM_001163436.2:c.1714del	NP_001156908.1:p.Ala572LeufsTer12
NM_001163437.2:c.1597del	NP_001156909.1:p.Ala533LeufsTer12
NM_001290768.1:c.1198del	NP_001277697.1:p.Ala400LeufsTer12
NM_033115.4:c.1525del	NP_149106.2:p.Ala509LeufsTer12
XM_006714419.2:c.1714del	XP_006714482.1:p.Ala572LeufsTer12
XM_011532417.1:c.1714del	XP_011530719.1:p.Ala572LeufsTer12
XM_011532418.1:c.1396del	XP_011530720.1:p.Ala466LeufsTer12
XM_011532419.1:c.1198del	XP_011530721.1:p.Ala400LeufsTer12
XR_938800.1:n.1743del
XM_011532417.2:c.1714del	XP_011530719.1:p.Ala572LeufsTer12
XM_017008846.1:c.1714del	XP_016864335.1:p.Ala572LeufsTer12
XM_017008847.2:c.1714del	XP_016864336.1:p.Ala572LeufsTer12
XM_017008848.1:c.1396del	XP_016864337.1:p.Ala466LeufsTer12
XM_017008849.1:c.1198del	XP_016864338.1:p.Ala400LeufsTer12
XM_024454281.1:c.1714del	XP_024310049.1:p.Ala572LeufsTer12
XM_024454282.1:c.1714del	XP_024310050.1:p.Ala572LeufsTer12
XR_001741353.2:n.2054del
XR_001741354.2:n.1651del
XR_002959772.1:n.1838del
XR_938800.3:n.2054del
NM_001163435.3:c.1714del MANE Select	NP_001156907.2:p.Ala572LeufsTer12
NM_001163436.4:c.1714del	NP_001156908.2:p.Ala572LeufsTer12
NM_001163437.3:c.1597del	NP_001156909.2:p.Ala533LeufsTer12
NM_001290768.2:c.1198del	NP_001277697.2:p.Ala400LeufsTer12
NM_033115.5:c.1525del	NP_149106.3:p.Ala509LeufsTer12