Canonical Allele Identifier: CA855743694

Gene: TPD52

Linked Data

• dbSNP Id: rs1180595445
• gnomAD v3: 8-80119756-AAAC-A
• gnomAD v4: 8-80119756-AAAC-A
• MyVariant Identifiers: chr8:g.81031992_81031994del (hg19) ; chr8:g.80119757_80119759del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80119759_80119761del , CM000670.2:g.80119759_80119761del	GRCh38
NC_000008.10:g.81031994_81031996del , CM000670.1:g.81031994_81031996del	GRCh37
NC_000008.9:g.81194549_81194551del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.19+51666_19+51668del MANE Select	ENSP00000429915.1:n.19+51666_19+51668del
ENST00000379096.9:c.19+51666_19+51668del	ENSP00000368390.4:n.19+51666_19+51668del
ENST00000518517.5:c.89+56_89+58del	ENSP00000430421.1:n.89+56_89+58del
ENST00000518937.5:c.19+51666_19+51668del	ENSP00000429915.1:n.19+51666_19+51668del
ENST00000519250.5:n.236-55166_236-55164del
ENST00000519303.6:c.-423+51262_-423+51264del	ENSP00000428951.1:n.-423+51262_-423+51264del
ENST00000520795.5:c.177+51448_177+51450del
ENST00000521241.6:c.19+51666_19+51668del	ENSP00000430323.1:n.19+51666_19+51668del
ENST00000521354.5:c.19+51666_19+51668del	ENSP00000430646.1:n.19+51666_19+51668del
ENST00000521561.1:n.451+38678_451+38680del
ENST00000523753.5:c.89+56_89+58del	ENSP00000430140.1:n.89+56_89+58del
NM_001025253.2:c.19+51666_19+51668del	NP_001020424.1:n.19+51666_19+51668del
NM_001287144.1:c.19+51666_19+51668del	NP_001274073.1:n.19+51666_19+51668del
NM_005079.3:c.19+51666_19+51668del	NP_005070.1:n.19+51666_19+51668del
NR_105034.1:n.235+51666_235+51668del
NR_105035.1:n.305+56_305+58del
NR_105036.1:n.180+51262_180+51264del
NR_105037.1:n.250+56_250+58del
NM_001025253.3:c.19+51666_19+51668del MANE Select	NP_001020424.1:n.19+51666_19+51668del
NM_001287144.2:c.19+51666_19+51668del	NP_001274073.1:n.19+51666_19+51668del
NM_005079.4:c.19+51666_19+51668del	NP_005070.1:n.19+51666_19+51668del
NR_105034.2:n.140+51666_140+51668del
NR_105035.2:n.210+56_210+58del
NR_105036.2:n.101+51262_101+51264del
NR_105037.2:n.171+56_171+58del
NM_001387778.1:c.19+51666_19+51668del	NP_001374707.1:n.19+51666_19+51668del
NM_001387779.1:c.19+51666_19+51668del	NP_001374708.1:n.19+51666_19+51668del
NM_001387780.1:c.-65-9824_-65-9822del	NP_001374709.1:n.-65-9824_-65-9822del
NR_170693.1:n.140+51666_140+51668del
NR_170694.1:n.140+51666_140+51668del