Canonical Allele Identifier: CA180377326

Gene: TPD52

Linked Data

• dbSNP Id: rs141445156
• gnomAD v2: 8-81031932-AAAG-A
• gnomAD v3: 8-80119697-AAAG-A
• gnomAD v4: 8-80119697-AAAG-A
• MyVariant Identifiers: chr8:g.81031933_81031935del (hg19) ; chr8:g.80119698_80119700del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80119700_80119702del , CM000670.2:g.80119700_80119702del	GRCh38
NC_000008.10:g.81031935_81031937del , CM000670.1:g.81031935_81031937del	GRCh37
NC_000008.9:g.81194490_81194492del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.19+51725_19+51727del MANE Select	ENSP00000429915.1:n.19+51725_19+51727del
ENST00000379096.9:c.19+51725_19+51727del	ENSP00000368390.4:n.19+51725_19+51727del
ENST00000518517.5:c.89+115_89+117del	ENSP00000430421.1:n.89+115_89+117del
ENST00000518937.5:c.19+51725_19+51727del	ENSP00000429915.1:n.19+51725_19+51727del
ENST00000519250.5:n.236-55107_236-55105del
ENST00000519303.6:c.-423+51321_-423+51323del	ENSP00000428951.1:n.-423+51321_-423+51323del
ENST00000520795.5:c.177+51507_177+51509del
ENST00000521241.6:c.19+51725_19+51727del	ENSP00000430323.1:n.19+51725_19+51727del
ENST00000521354.5:c.19+51725_19+51727del	ENSP00000430646.1:n.19+51725_19+51727del
ENST00000521561.1:n.451+38737_451+38739del
ENST00000523753.5:c.89+115_89+117del	ENSP00000430140.1:n.89+115_89+117del
NM_001025253.2:c.19+51725_19+51727del	NP_001020424.1:n.19+51725_19+51727del
NM_001287144.1:c.19+51725_19+51727del	NP_001274073.1:n.19+51725_19+51727del
NM_005079.3:c.19+51725_19+51727del	NP_005070.1:n.19+51725_19+51727del
NR_105034.1:n.235+51725_235+51727del
NR_105035.1:n.305+115_305+117del
NR_105036.1:n.180+51321_180+51323del
NR_105037.1:n.250+115_250+117del
NM_001025253.3:c.19+51725_19+51727del MANE Select	NP_001020424.1:n.19+51725_19+51727del
NM_001287144.2:c.19+51725_19+51727del	NP_001274073.1:n.19+51725_19+51727del
NM_005079.4:c.19+51725_19+51727del	NP_005070.1:n.19+51725_19+51727del
NR_105034.2:n.140+51725_140+51727del
NR_105035.2:n.210+115_210+117del
NR_105036.2:n.101+51321_101+51323del
NR_105037.2:n.171+115_171+117del
NM_001387778.1:c.19+51725_19+51727del	NP_001374707.1:n.19+51725_19+51727del
NM_001387779.1:c.19+51725_19+51727del	NP_001374708.1:n.19+51725_19+51727del
NM_001387780.1:c.-65-9765_-65-9763del	NP_001374709.1:n.-65-9765_-65-9763del
NR_170693.1:n.140+51725_140+51727del
NR_170694.1:n.140+51725_140+51727del