Canonical Allele Identifier: CA1115746053

Gene: TPD52

Linked Data

• dbSNP Id: rs1810006324
• gnomAD v3: 8-80037687-A-AC
• gnomAD v4: 8-80037687-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80037687_80037688insC , CM000670.2:g.80037687_80037688insC	GRCh38
NC_000008.10:g.80949922_80949923insC , CM000670.1:g.80949922_80949923insC	GRCh37
NC_000008.9:g.81112477_81112478insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.*428_*429insG MANE Select	ENSP00000429915.1:n.*428_*429insG
ENST00000379096.9:c.*428_*429insG	ENSP00000368390.4:n.*428_*429insG
ENST00000379097.7:c.*428_*429insG	ENSP00000368391.3:n.*428_*429insG
ENST00000448733.3:c.*428_*429insG	ENSP00000410222.2:n.*428_*429insG
ENST00000517427.5:c.*428_*429insG	ENSP00000429351.1:n.*428_*429insG
ENST00000517462.6:c.*786_*787insG	ENSP00000429708.1:n.*786_*787insG
ENST00000518937.5:c.*428_*429insG	ENSP00000429915.1:n.*428_*429insG
ENST00000519303.6:c.*428_*429insG	ENSP00000428951.1:n.*428_*429insG
ENST00000520527.5:c.*428_*429insG	ENSP00000429309.1:n.*428_*429insG
ENST00000522938.5:c.555+4932_555+4933insG	ENSP00000430858.2:n.555+4932_555+4933insG
ENST00000523395.5:n.762_763insG
NM_001025252.2:c.*428_*429insG	NP_001020423.1:n.*428_*429insG
NM_001025253.2:c.*428_*429insG	NP_001020424.1:n.*428_*429insG
NM_001287140.1:c.*428_*429insG	NP_001274069.1:n.*428_*429insG
NM_001287142.1:c.*428_*429insG	NP_001274071.1:n.*428_*429insG
NM_001287143.1:c.*428_*429insG	NP_001274072.1:n.*428_*429insG
NM_001287144.1:c.*538_*539insG	NP_001274073.1:n.*538_*539insG
NM_005079.3:c.*428_*429insG	NP_005070.1:n.*428_*429insG
NR_105033.1:n.1620_1621insG
NR_105034.1:n.1083_1084insG
NR_105035.1:n.1269_1270insG
NR_105036.1:n.1213_1214insG
NR_105037.1:n.1214_1215insG
NM_001025252.3:c.*428_*429insG	NP_001020423.1:n.*428_*429insG
NM_001025253.3:c.*428_*429insG MANE Select	NP_001020424.1:n.*428_*429insG
NM_001287140.2:c.*428_*429insG	NP_001274069.1:n.*428_*429insG
NM_001287143.2:c.*428_*429insG	NP_001274072.1:n.*428_*429insG
NM_001287144.2:c.*538_*539insG	NP_001274073.1:n.*538_*539insG
NM_005079.4:c.*428_*429insG	NP_005070.1:n.*428_*429insG
NR_105033.2:n.1619_1620insG
NR_105034.2:n.988_989insG
NR_105035.2:n.1174_1175insG
NR_105036.2:n.1134_1135insG
NR_105037.2:n.1135_1136insG
NM_001287142.2:c.*428_*429insG	NP_001274071.1:n.*428_*429insG
NM_001387778.1:c.435+4932_435+4933insG	NP_001374707.1:n.435+4932_435+4933insG
NM_001387779.1:c.436-3845_436-3844insG	NP_001374708.1:n.436-3845_436-3844insG
NM_001387780.1:c.460-3845_460-3844insG	NP_001374709.1:n.460-3845_460-3844insG
NR_170693.1:n.1123_1124insG
NR_170694.1:n.1150_1151insG