Canonical Allele Identifier: CA583079437

Gene: TPD52

Linked Data

• dbSNP Id: rs540701180
• gnomAD v2: 8-81031771-G-GA
• gnomAD v3: 8-80119536-G-GA
• gnomAD v4: 8-80119536-G-GA
• MyVariant Identifiers: chr8:g.81031772_81031773insA (hg19) ; chr8:g.81031771_81031772insA (hg19) ; chr8:g.80119537_80119538insA (hg38) ; chr8:g.80119536_80119537insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80119543dup , CM000670.2:g.80119543dup	GRCh38
NC_000008.10:g.81031778dup , CM000670.1:g.81031778dup	GRCh37
NC_000008.9:g.81194333dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.19+51888dup MANE Select	ENSP00000429915.1:n.19+51888dup
ENST00000379096.9:c.19+51888dup	ENSP00000368390.4:n.19+51888dup
ENST00000518517.5:c.89+278dup	ENSP00000430421.1:n.89+278dup
ENST00000518937.5:c.19+51888dup	ENSP00000429915.1:n.19+51888dup
ENST00000519250.5:n.236-54944dup
ENST00000519303.6:c.-423+51484dup	ENSP00000428951.1:n.-423+51484dup
ENST00000520795.5:c.177+51670dup
ENST00000521241.6:c.19+51888dup	ENSP00000430323.1:n.19+51888dup
ENST00000521354.5:c.19+51888dup	ENSP00000430646.1:n.19+51888dup
ENST00000521561.1:n.451+38900dup
ENST00000523753.5:c.89+278dup	ENSP00000430140.1:n.89+278dup
NM_001025253.2:c.19+51888dup	NP_001020424.1:n.19+51888dup
NM_001287144.1:c.19+51888dup	NP_001274073.1:n.19+51888dup
NM_005079.3:c.19+51888dup	NP_005070.1:n.19+51888dup
NR_105034.1:n.235+51888dup
NR_105035.1:n.305+278dup
NR_105036.1:n.180+51484dup
NR_105037.1:n.250+278dup
NM_001025253.3:c.19+51888dup MANE Select	NP_001020424.1:n.19+51888dup
NM_001287144.2:c.19+51888dup	NP_001274073.1:n.19+51888dup
NM_005079.4:c.19+51888dup	NP_005070.1:n.19+51888dup
NR_105034.2:n.140+51888dup
NR_105035.2:n.210+278dup
NR_105036.2:n.101+51484dup
NR_105037.2:n.171+278dup
NM_001387778.1:c.19+51888dup	NP_001374707.1:n.19+51888dup
NM_001387779.1:c.19+51888dup	NP_001374708.1:n.19+51888dup
NM_001387780.1:c.-65-9602dup	NP_001374709.1:n.-65-9602dup
NR_170693.1:n.140+51888dup
NR_170694.1:n.140+51888dup