Canonical Allele Identifier: CA1796774749

Gene: TPD52

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80037575_80037576delinsAT , CM000670.2:g.80037575_80037576delinsAT	GRCh38
NC_000008.10:g.80949810_80949811delinsAT , CM000670.1:g.80949810_80949811delinsAT	GRCh37
NC_000008.9:g.81112365_81112366delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000518937.6:c.*540_*541delinsAT MANE Select	ENSP00000429915.1:n.*540_*541delinsAT
ENST00000379096.9:c.*540_*541delinsAT	ENSP00000368390.4:n.*540_*541delinsAT
ENST00000379097.7:c.*540_*541delinsAT	ENSP00000368391.3:n.*540_*541delinsAT
ENST00000448733.3:c.*540_*541delinsAT	ENSP00000410222.2:n.*540_*541delinsAT
ENST00000517427.5:c.*540_*541delinsAT	ENSP00000429351.1:n.*540_*541delinsAT
ENST00000517462.6:c.*898_*899delinsAT	ENSP00000429708.1:n.*898_*899delinsAT
ENST00000518937.5:c.*540_*541delinsAT	ENSP00000429915.1:n.*540_*541delinsAT
ENST00000519303.6:c.*540_*541delinsAT	ENSP00000428951.1:n.*540_*541delinsAT
ENST00000520527.5:c.*540_*541delinsAT	ENSP00000429309.1:n.*540_*541delinsAT
ENST00000522938.5:c.555+5044_555+5045delinsAT	ENSP00000430858.2:n.555+5044_555+5045delinsAT
NM_001025252.2:c.*540_*541delinsAT	NP_001020423.1:n.*540_*541delinsAT
NM_001025253.2:c.*540_*541delinsAT	NP_001020424.1:n.*540_*541delinsAT
NM_001287140.1:c.*540_*541delinsAT	NP_001274069.1:n.*540_*541delinsAT
NM_001287142.1:c.*540_*541delinsAT	NP_001274071.1:n.*540_*541delinsAT
NM_001287143.1:c.*540_*541delinsAT	NP_001274072.1:n.*540_*541delinsAT
NM_001287144.1:c.*650_*651delinsAT	NP_001274073.1:n.*650_*651delinsAT
NM_005079.3:c.*540_*541delinsAT	NP_005070.1:n.*540_*541delinsAT
NR_105033.1:n.1732_1733delinsAT
NR_105034.1:n.1195_1196delinsAT
NR_105035.1:n.1381_1382delinsAT
NR_105036.1:n.1325_1326delinsAT
NR_105037.1:n.1326_1327delinsAT
NM_001025252.3:c.*540_*541delinsAT	NP_001020423.1:n.*540_*541delinsAT
NM_001025253.3:c.*540_*541delinsAT MANE Select	NP_001020424.1:n.*540_*541delinsAT
NM_001287140.2:c.*540_*541delinsAT	NP_001274069.1:n.*540_*541delinsAT
NM_001287143.2:c.*540_*541delinsAT	NP_001274072.1:n.*540_*541delinsAT
NM_001287144.2:c.*650_*651delinsAT	NP_001274073.1:n.*650_*651delinsAT
NM_005079.4:c.*540_*541delinsAT	NP_005070.1:n.*540_*541delinsAT
NR_105033.2:n.1731_1732delinsAT
NR_105034.2:n.1100_1101delinsAT
NR_105035.2:n.1286_1287delinsAT
NR_105036.2:n.1246_1247delinsAT
NR_105037.2:n.1247_1248delinsAT
NM_001287142.2:c.*540_*541delinsAT	NP_001274071.1:n.*540_*541delinsAT
NM_001387778.1:c.435+5044_435+5045delinsAT	NP_001374707.1:n.435+5044_435+5045delinsAT
NM_001387779.1:c.436-3733_436-3732delinsAT	NP_001374708.1:n.436-3733_436-3732delinsAT
NM_001387780.1:c.460-3733_460-3732delinsAT	NP_001374709.1:n.460-3733_460-3732delinsAT
NR_170693.1:n.1235_1236delinsAT
NR_170694.1:n.1262_1263delinsAT