Canonical Allele Identifier: CA2573150738

Gene: TP53BP1 TUBGCP4

Linked Data

• ClinVar Variation Id: 1410082
• ClinVar RCV Id: RCV001939997
• dbSNP Id: rs2142906931

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43405190_43405197del , CM000677.2:g.43405190_43405197del	GRCh38
NC_000015.9:g.43697388_43697395del , CM000677.1:g.43697388_43697395del	GRCh37
NC_000015.8:g.41484680_41484687del	NCBI36
NG_042168.1:g.39132_39139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382044.9:c.*2193_*2200del (TP53BP1) MANE Select	ENSP00000371475.5:n.*2193_*2200del
ENST00000564079.6:c.1989-12_1989-5del (TUBGCP4) MANE Select	ENSP00000456648.2:n.1989-12_1989-5del
ENST00000260383.11:c.1992-12_1992-5del (TUBGCP4)	ENSP00000260383.7:n.1992-12_1992-5del
ENST00000382044.8:c.*2193_*2200del (TP53BP1)	ENSP00000371475.4:n.*2193_*2200del
ENST00000561691.5:c.1811-12_1811-5del (TUBGCP4)
ENST00000563147.5:c.504-12_504-5del (TUBGCP4)	ENSP00000454915.1:n.504-12_504-5del
ENST00000563963.1:n.4258-12_4258-5del (TUBGCP4)
ENST00000564079.5:c.1989-12_1989-5del (TUBGCP4)	ENSP00000456648.1:n.1989-12_1989-5del
ENST00000565548.1:c.302+638_302+645del (TUBGCP4)	ENSP00000456550.1:n.302+638_302+645del
ENST00000566251.1:c.334-12_334-5del (TUBGCP4)	ENSP00000455555.1:n.334-12_334-5del
NM_001286414.1:c.1992-12_1992-5del (TUBGCP4)	NP_001273343.1:n.1992-12_1992-5del
NM_001286414.2:c.1992-12_1992-5del (TUBGCP4)	NP_001273343.1:n.1992-12_1992-5del
NM_014444.3:c.1989-12_1989-5del (TUBGCP4)	NP_055259.2:n.1989-12_1989-5del
NM_014444.4:c.1989-12_1989-5del (TUBGCP4)	NP_055259.2:n.1989-12_1989-5del
XM_005254635.3:c.*2193_*2200del (TP53BP1)	XP_005254692.1:n.*2193_*2200del
XM_011521453.1:c.1941-12_1941-5del (TUBGCP4)	XP_011519755.1:n.1941-12_1941-5del
XM_011521454.1:c.1875-12_1875-5del (TUBGCP4)	XP_011519756.1:n.1875-12_1875-5del
XM_011521455.1:c.1584-12_1584-5del (TUBGCP4)	XP_011519757.1:n.1584-12_1584-5del
XM_011521984.1:c.*2193_*2200del (TP53BP1)	XP_011520286.1:n.*2193_*2200del
XM_011521985.1:c.*2193_*2200del (TP53BP1)	XP_011520287.1:n.*2193_*2200del
XR_243092.2:n.2351-12_2351-5del (TUBGCP4)
NM_001141979.2:c.*2193_*2200del (TP53BP1)	NP_001135451.1:n.*2193_*2200del
NM_001141980.2:c.*2193_*2200del (TP53BP1)	NP_001135452.1:n.*2193_*2200del
NM_001355001.1:c.*2193_*2200del (TP53BP1)	NP_001341930.1:n.*2193_*2200del
NM_005657.3:c.*2193_*2200del (TP53BP1)	NP_005648.1:n.*2193_*2200del
XM_011521454.3:c.1875-12_1875-5del (TUBGCP4)	XP_011519756.1:n.1875-12_1875-5del
XM_011521455.2:c.1584-12_1584-5del (TUBGCP4)	XP_011519757.1:n.1584-12_1584-5del
XM_011521985.2:c.*2193_*2200del (TP53BP1)	XP_011520287.1:n.*2193_*2200del
XM_017022078.2:c.1872-12_1872-5del (TUBGCP4)	XP_016877567.1:n.1872-12_1872-5del
XR_001751226.2:n.2217-12_2217-5del (TUBGCP4)
XR_001751382.2:n.8408_8415del (TP53BP1)
XR_243092.4:n.2334-12_2334-5del (TUBGCP4)
NM_001141979.3:c.*2193_*2200del (TP53BP1)	NP_001135451.1:n.*2193_*2200del
NM_001141980.3:c.*2193_*2200del (TP53BP1) MANE Select	NP_001135452.1:n.*2193_*2200del
NM_001286414.3:c.1992-12_1992-5del (TUBGCP4)	NP_001273343.1:n.1992-12_1992-5del
NM_001355001.2:c.*2193_*2200del (TP53BP1)	NP_001341930.1:n.*2193_*2200del
NM_005657.4:c.*2193_*2200del (TP53BP1)	NP_005648.1:n.*2193_*2200del
NM_014444.5:c.1989-12_1989-5del (TUBGCP4) MANE Select	NP_055259.2:n.1989-12_1989-5del