Canonical Allele Identifier: CA1796774773
Gene: TPD52 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.80037620_80037638delinsAGCTAGTAGTTCTTTCCTT , CM000670.2:g.80037620_80037638delinsAGCTAGTAGTTCTTTCCTT GRCh38
NC_000008.10:g.80949855_80949873delinsAGCTAGTAGTTCTTTCCTT , CM000670.1:g.80949855_80949873delinsAGCTAGTAGTTCTTTCCTT GRCh37
NC_000008.9:g.81112410_81112428delinsAGCTAGTAGTTCTTTCCTT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000518937.6:c.*478_*496delinsAAGGAAAGAACTACTAGCT MANE Select ENSP00000429915.1:n.*478_*496delinsAAGGAA...
ENST00000379096.9:c.*478_*496delinsAAGGAAAGAACTACTAGCT ENSP00000368390.4:n.*478_*496delinsAAGGAA...
ENST00000379097.7:c.*478_*496delinsAAGGAAAGAACTACTAGCT ENSP00000368391.3:n.*478_*496delinsAAGGAA...
ENST00000448733.3:c.*478_*496delinsAAGGAAAGAACTACTAGCT ENSP00000410222.2:n.*478_*496delinsAAGGAA...
ENST00000517427.5:c.*478_*496delinsAAGGAAAGAACTACTAGCT ENSP00000429351.1:n.*478_*496delinsAAGGAA...
ENST00000517462.6:c.*836_*854delinsAAGGAAAGAACTACTAGCT ENSP00000429708.1:n.*836_*854delinsAAGGAA...
ENST00000518937.5:c.*478_*496delinsAAGGAAAGAACTACTAGCT ENSP00000429915.1:n.*478_*496delinsAAGGAA...
ENST00000519303.6:c.*478_*496delinsAAGGAAAGAACTACTAGCT ENSP00000428951.1:n.*478_*496delinsAAGGAA...
ENST00000520527.5:c.*478_*496delinsAAGGAAAGAACTACTAGCT ENSP00000429309.1:n.*478_*496delinsAAGGAA...
ENST00000522938.5:c.555+4982_555+5000delinsAAGGAAAGAACTACTAGCT ENSP00000430858.2:n.555+4982_555+5000deli...
NM_001025252.2:c.*478_*496delinsAAGGAAAGAACTACTAGCT NP_001020423.1:n.*478_*496delinsAAGGAAAGA...
NM_001025253.2:c.*478_*496delinsAAGGAAAGAACTACTAGCT NP_001020424.1:n.*478_*496delinsAAGGAAAGA...
NM_001287140.1:c.*478_*496delinsAAGGAAAGAACTACTAGCT NP_001274069.1:n.*478_*496delinsAAGGAAAGA...
NM_001287142.1:c.*478_*496delinsAAGGAAAGAACTACTAGCT NP_001274071.1:n.*478_*496delinsAAGGAAAGA...
NM_001287143.1:c.*478_*496delinsAAGGAAAGAACTACTAGCT NP_001274072.1:n.*478_*496delinsAAGGAAAGA...
NM_001287144.1:c.*588_*606delinsAAGGAAAGAACTACTAGCT NP_001274073.1:n.*588_*606delinsAAGGAAAGA...
NM_005079.3:c.*478_*496delinsAAGGAAAGAACTACTAGCT NP_005070.1:n.*478_*496delinsAAGGAAAGAACT...
NR_105033.1:n.1670_1688delinsAAGGAAAGAACTACTAGCT
NR_105034.1:n.1133_1151delinsAAGGAAAGAACTACTAGCT
NR_105035.1:n.1319_1337delinsAAGGAAAGAACTACTAGCT
NR_105036.1:n.1263_1281delinsAAGGAAAGAACTACTAGCT
NR_105037.1:n.1264_1282delinsAAGGAAAGAACTACTAGCT
NM_001025252.3:c.*478_*496delinsAAGGAAAGAACTACTAGCT NP_001020423.1:n.*478_*496delinsAAGGAAAGA...
NM_001025253.3:c.*478_*496delinsAAGGAAAGAACTACTAGCT MANE Select NP_001020424.1:n.*478_*496delinsAAGGAAAGA...
NM_001287140.2:c.*478_*496delinsAAGGAAAGAACTACTAGCT NP_001274069.1:n.*478_*496delinsAAGGAAAGA...
NM_001287143.2:c.*478_*496delinsAAGGAAAGAACTACTAGCT NP_001274072.1:n.*478_*496delinsAAGGAAAGA...
NM_001287144.2:c.*588_*606delinsAAGGAAAGAACTACTAGCT NP_001274073.1:n.*588_*606delinsAAGGAAAGA...
NM_005079.4:c.*478_*496delinsAAGGAAAGAACTACTAGCT NP_005070.1:n.*478_*496delinsAAGGAAAGAACT...
NR_105033.2:n.1669_1687delinsAAGGAAAGAACTACTAGCT
NR_105034.2:n.1038_1056delinsAAGGAAAGAACTACTAGCT
NR_105035.2:n.1224_1242delinsAAGGAAAGAACTACTAGCT
NR_105036.2:n.1184_1202delinsAAGGAAAGAACTACTAGCT
NR_105037.2:n.1185_1203delinsAAGGAAAGAACTACTAGCT
NM_001287142.2:c.*478_*496delinsAAGGAAAGAACTACTAGCT NP_001274071.1:n.*478_*496delinsAAGGAAAGA...
NM_001387778.1:c.435+4982_435+5000delinsAAGGAAAGAACTACTAGCT NP_001374707.1:n.435+4982_435+5000delinsA...
NM_001387779.1:c.436-3795_436-3777delinsAAGGAAAGAACTACTAGCT NP_001374708.1:n.436-3795_436-3777delinsA...
NM_001387780.1:c.460-3795_460-3777delinsAAGGAAAGAACTACTAGCT NP_001374709.1:n.460-3795_460-3777delinsA...
NR_170693.1:n.1173_1191delinsAAGGAAAGAACTACTAGCT
NR_170694.1:n.1200_1218delinsAAGGAAAGAACTACTAGCT