Canonical Allele Identifier: CA1115746071

Gene: TPD52

Linked Data

• gnomAD v3: 8-80037740-G-GAAAA
• gnomAD v4: 8-80037740-G-GAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80037744_80037747dup , CM000670.2:g.80037744_80037747dup	GRCh38
NC_000008.10:g.80949979_80949982dup , CM000670.1:g.80949979_80949982dup	GRCh37
NC_000008.9:g.81112534_81112537dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.*372_*375dup MANE Select	ENSP00000429915.1:n.*372_*375dup
ENST00000379096.9:c.*372_*375dup	ENSP00000368390.4:n.*372_*375dup
ENST00000379097.7:c.*372_*375dup	ENSP00000368391.3:n.*372_*375dup
ENST00000448733.3:c.*372_*375dup	ENSP00000410222.2:n.*372_*375dup
ENST00000517427.5:c.*372_*375dup	ENSP00000429351.1:n.*372_*375dup
ENST00000517462.6:c.*730_*733dup	ENSP00000429708.1:n.*730_*733dup
ENST00000518937.5:c.*372_*375dup	ENSP00000429915.1:n.*372_*375dup
ENST00000519303.6:c.*372_*375dup	ENSP00000428951.1:n.*372_*375dup
ENST00000520527.5:c.*372_*375dup	ENSP00000429309.1:n.*372_*375dup
ENST00000522938.5:c.555+4876_555+4879dup	ENSP00000430858.2:n.555+4876_555+4879dup
ENST00000523395.5:n.706_709dup
NM_001025252.2:c.*372_*375dup	NP_001020423.1:n.*372_*375dup
NM_001025253.2:c.*372_*375dup	NP_001020424.1:n.*372_*375dup
NM_001287140.1:c.*372_*375dup	NP_001274069.1:n.*372_*375dup
NM_001287142.1:c.*372_*375dup	NP_001274071.1:n.*372_*375dup
NM_001287143.1:c.*372_*375dup	NP_001274072.1:n.*372_*375dup
NM_001287144.1:c.*482_*485dup	NP_001274073.1:n.*482_*485dup
NM_005079.3:c.*372_*375dup	NP_005070.1:n.*372_*375dup
NR_105033.1:n.1564_1567dup
NR_105034.1:n.1027_1030dup
NR_105035.1:n.1213_1216dup
NR_105036.1:n.1157_1160dup
NR_105037.1:n.1158_1161dup
NM_001025252.3:c.*372_*375dup	NP_001020423.1:n.*372_*375dup
NM_001025253.3:c.*372_*375dup MANE Select	NP_001020424.1:n.*372_*375dup
NM_001287140.2:c.*372_*375dup	NP_001274069.1:n.*372_*375dup
NM_001287143.2:c.*372_*375dup	NP_001274072.1:n.*372_*375dup
NM_001287144.2:c.*482_*485dup	NP_001274073.1:n.*482_*485dup
NM_005079.4:c.*372_*375dup	NP_005070.1:n.*372_*375dup
NR_105033.2:n.1563_1566dup
NR_105034.2:n.932_935dup
NR_105035.2:n.1118_1121dup
NR_105036.2:n.1078_1081dup
NR_105037.2:n.1079_1082dup
NM_001287142.2:c.*372_*375dup	NP_001274071.1:n.*372_*375dup
NM_001387778.1:c.435+4876_435+4879dup	NP_001374707.1:n.435+4876_435+4879dup
NM_001387779.1:c.436-3901_436-3898dup	NP_001374708.1:n.436-3901_436-3898dup
NM_001387780.1:c.460-3901_460-3898dup	NP_001374709.1:n.460-3901_460-3898dup
NR_170693.1:n.1067_1070dup
NR_170694.1:n.1094_1097dup