Canonical Allele Identifier: CA855695257
Gene: TPD52 HGNC NCBI

Linked Data

dbSNP Id: rs1208064650

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.80037609del , CM000670.2:g.80037609del GRCh38
NC_000008.10:g.80949844del , CM000670.1:g.80949844del GRCh37
NC_000008.9:g.81112399del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000518937.6:c.*510del MANE Select ENSP00000429915.1:n.*510del
ENST00000379096.9:c.*510del ENSP00000368390.4:n.*510del
ENST00000379097.7:c.*510del ENSP00000368391.3:n.*510del
ENST00000448733.3:c.*510del ENSP00000410222.2:n.*510del
ENST00000517427.5:c.*510del ENSP00000429351.1:n.*510del
ENST00000517462.6:c.*868del ENSP00000429708.1:n.*868del
ENST00000518937.5:c.*510del ENSP00000429915.1:n.*510del
ENST00000519303.6:c.*510del ENSP00000428951.1:n.*510del
ENST00000520527.5:c.*510del ENSP00000429309.1:n.*510del
ENST00000522938.5:c.555+5014del ENSP00000430858.2:n.555+5014del
NM_001025252.2:c.*510del NP_001020423.1:n.*510del
NM_001025253.2:c.*510del NP_001020424.1:n.*510del
NM_001287140.1:c.*510del NP_001274069.1:n.*510del
NM_001287142.1:c.*510del NP_001274071.1:n.*510del
NM_001287143.1:c.*510del NP_001274072.1:n.*510del
NM_001287144.1:c.*620del NP_001274073.1:n.*620del
NM_005079.3:c.*510del NP_005070.1:n.*510del
NR_105033.1:n.1702del
NR_105034.1:n.1165del
NR_105035.1:n.1351del
NR_105036.1:n.1295del
NR_105037.1:n.1296del
NM_001025252.3:c.*510del NP_001020423.1:n.*510del
NM_001025253.3:c.*510del MANE Select NP_001020424.1:n.*510del
NM_001287140.2:c.*510del NP_001274069.1:n.*510del
NM_001287143.2:c.*510del NP_001274072.1:n.*510del
NM_001287144.2:c.*620del NP_001274073.1:n.*620del
NM_005079.4:c.*510del NP_005070.1:n.*510del
NR_105033.2:n.1701del
NR_105034.2:n.1070del
NR_105035.2:n.1256del
NR_105036.2:n.1216del
NR_105037.2:n.1217del
NM_001287142.2:c.*510del NP_001274071.1:n.*510del
NM_001387778.1:c.435+5014del NP_001374707.1:n.435+5014del
NM_001387779.1:c.436-3763del NP_001374708.1:n.436-3763del
NM_001387780.1:c.460-3763del NP_001374709.1:n.460-3763del
NR_170693.1:n.1205del
NR_170694.1:n.1232del