Canonical Allele Identifier: CA2687716036

Gene: TPD52

Linked Data

• gnomAD v4: 8-80119736-AAGAATAAACAAAACATTTGAAACAAGTCCAGAAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80119740_80119774del , CM000670.2:g.80119740_80119774del	GRCh38
NC_000008.10:g.81031975_81032009del , CM000670.1:g.81031975_81032009del	GRCh37
NC_000008.9:g.81194530_81194564del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.19+51654_19+51688del MANE Select	ENSP00000429915.1:n.19+51654_19+51688del
ENST00000379096.9:c.19+51654_19+51688del	ENSP00000368390.4:n.19+51654_19+51688del
ENST00000518517.5:c.89+44_89+78del	ENSP00000430421.1:n.89+44_89+78del
ENST00000518937.5:c.19+51654_19+51688del	ENSP00000429915.1:n.19+51654_19+51688del
ENST00000519250.5:n.236-55178_236-55144del
ENST00000519303.6:c.-423+51250_-423+51284del	ENSP00000428951.1:n.-423+51250_-423+51284del
ENST00000520795.5:c.177+51436_177+51470del
ENST00000521241.6:c.19+51654_19+51688del	ENSP00000430323.1:n.19+51654_19+51688del
ENST00000521354.5:c.19+51654_19+51688del	ENSP00000430646.1:n.19+51654_19+51688del
ENST00000521561.1:n.451+38666_451+38700del
ENST00000523753.5:c.89+44_89+78del	ENSP00000430140.1:n.89+44_89+78del
NM_001025253.2:c.19+51654_19+51688del	NP_001020424.1:n.19+51654_19+51688del
NM_001287144.1:c.19+51654_19+51688del	NP_001274073.1:n.19+51654_19+51688del
NM_005079.3:c.19+51654_19+51688del	NP_005070.1:n.19+51654_19+51688del
NR_105034.1:n.235+51654_235+51688del
NR_105035.1:n.305+44_305+78del
NR_105036.1:n.180+51250_180+51284del
NR_105037.1:n.250+44_250+78del
NM_001025253.3:c.19+51654_19+51688del MANE Select	NP_001020424.1:n.19+51654_19+51688del
NM_001287144.2:c.19+51654_19+51688del	NP_001274073.1:n.19+51654_19+51688del
NM_005079.4:c.19+51654_19+51688del	NP_005070.1:n.19+51654_19+51688del
NR_105034.2:n.140+51654_140+51688del
NR_105035.2:n.210+44_210+78del
NR_105036.2:n.101+51250_101+51284del
NR_105037.2:n.171+44_171+78del
NM_001387778.1:c.19+51654_19+51688del	NP_001374707.1:n.19+51654_19+51688del
NM_001387779.1:c.19+51654_19+51688del	NP_001374708.1:n.19+51654_19+51688del
NM_001387780.1:c.-65-9836_-65-9802del	NP_001374709.1:n.-65-9836_-65-9802del
NR_170693.1:n.140+51654_140+51688del
NR_170694.1:n.140+51654_140+51688del