Canonical Allele Identifier: CA1796774772

Gene: TPD52

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80037620_80037634delinsAGCTAGTAGTTCTTT , CM000670.2:g.80037620_80037634delinsAGCTAGTAGTTCTTT	GRCh38
NC_000008.10:g.80949855_80949869delinsAGCTAGTAGTTCTTT , CM000670.1:g.80949855_80949869delinsAGCTAGTAGTTCTTT	GRCh37
NC_000008.9:g.81112410_81112424delinsAGCTAGTAGTTCTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.*482_*496delinsAAAGAACTACTAGCT MANE Select	ENSP00000429915.1:n.*482_*496delinsAAAGAACTACTAGCT
ENST00000379096.9:c.*482_*496delinsAAAGAACTACTAGCT	ENSP00000368390.4:n.*482_*496delinsAAAGAACTACTAGCT
ENST00000379097.7:c.*482_*496delinsAAAGAACTACTAGCT	ENSP00000368391.3:n.*482_*496delinsAAAGAACTACTAGCT
ENST00000448733.3:c.*482_*496delinsAAAGAACTACTAGCT	ENSP00000410222.2:n.*482_*496delinsAAAGAACTACTAGCT
ENST00000517427.5:c.*482_*496delinsAAAGAACTACTAGCT	ENSP00000429351.1:n.*482_*496delinsAAAGAACTACTAGCT
ENST00000517462.6:c.*840_*854delinsAAAGAACTACTAGCT	ENSP00000429708.1:n.*840_*854delinsAAAGAACTACTAGCT
ENST00000518937.5:c.*482_*496delinsAAAGAACTACTAGCT	ENSP00000429915.1:n.*482_*496delinsAAAGAACTACTAGCT
ENST00000519303.6:c.*482_*496delinsAAAGAACTACTAGCT	ENSP00000428951.1:n.*482_*496delinsAAAGAACTACTAGCT
ENST00000520527.5:c.*482_*496delinsAAAGAACTACTAGCT	ENSP00000429309.1:n.*482_*496delinsAAAGAACTACTAGCT
ENST00000522938.5:c.555+4986_555+5000delinsAAAGAACTACTAGCT	ENSP00000430858.2:n.555+4986_555+5000delinsAAAGAACTACTAGCT
NM_001025252.2:c.*482_*496delinsAAAGAACTACTAGCT	NP_001020423.1:n.*482_*496delinsAAAGAACTACTAGCT
NM_001025253.2:c.*482_*496delinsAAAGAACTACTAGCT	NP_001020424.1:n.*482_*496delinsAAAGAACTACTAGCT
NM_001287140.1:c.*482_*496delinsAAAGAACTACTAGCT	NP_001274069.1:n.*482_*496delinsAAAGAACTACTAGCT
NM_001287142.1:c.*482_*496delinsAAAGAACTACTAGCT	NP_001274071.1:n.*482_*496delinsAAAGAACTACTAGCT
NM_001287143.1:c.*482_*496delinsAAAGAACTACTAGCT	NP_001274072.1:n.*482_*496delinsAAAGAACTACTAGCT
NM_001287144.1:c.*592_*606delinsAAAGAACTACTAGCT	NP_001274073.1:n.*592_*606delinsAAAGAACTACTAGCT
NM_005079.3:c.*482_*496delinsAAAGAACTACTAGCT	NP_005070.1:n.*482_*496delinsAAAGAACTACTAGCT
NR_105033.1:n.1674_1688delinsAAAGAACTACTAGCT
NR_105034.1:n.1137_1151delinsAAAGAACTACTAGCT
NR_105035.1:n.1323_1337delinsAAAGAACTACTAGCT
NR_105036.1:n.1267_1281delinsAAAGAACTACTAGCT
NR_105037.1:n.1268_1282delinsAAAGAACTACTAGCT
NM_001025252.3:c.*482_*496delinsAAAGAACTACTAGCT	NP_001020423.1:n.*482_*496delinsAAAGAACTACTAGCT
NM_001025253.3:c.*482_*496delinsAAAGAACTACTAGCT MANE Select	NP_001020424.1:n.*482_*496delinsAAAGAACTACTAGCT
NM_001287140.2:c.*482_*496delinsAAAGAACTACTAGCT	NP_001274069.1:n.*482_*496delinsAAAGAACTACTAGCT
NM_001287143.2:c.*482_*496delinsAAAGAACTACTAGCT	NP_001274072.1:n.*482_*496delinsAAAGAACTACTAGCT
NM_001287144.2:c.*592_*606delinsAAAGAACTACTAGCT	NP_001274073.1:n.*592_*606delinsAAAGAACTACTAGCT
NM_005079.4:c.*482_*496delinsAAAGAACTACTAGCT	NP_005070.1:n.*482_*496delinsAAAGAACTACTAGCT
NR_105033.2:n.1673_1687delinsAAAGAACTACTAGCT
NR_105034.2:n.1042_1056delinsAAAGAACTACTAGCT
NR_105035.2:n.1228_1242delinsAAAGAACTACTAGCT
NR_105036.2:n.1188_1202delinsAAAGAACTACTAGCT
NR_105037.2:n.1189_1203delinsAAAGAACTACTAGCT
NM_001287142.2:c.*482_*496delinsAAAGAACTACTAGCT	NP_001274071.1:n.*482_*496delinsAAAGAACTACTAGCT
NM_001387778.1:c.435+4986_435+5000delinsAAAGAACTACTAGCT	NP_001374707.1:n.435+4986_435+5000delinsAAAGAACTACTAGCT
NM_001387779.1:c.436-3791_436-3777delinsAAAGAACTACTAGCT	NP_001374708.1:n.436-3791_436-3777delinsAAAGAACTACTAGCT
NM_001387780.1:c.460-3791_460-3777delinsAAAGAACTACTAGCT	NP_001374709.1:n.460-3791_460-3777delinsAAAGAACTACTAGCT
NR_170693.1:n.1177_1191delinsAAAGAACTACTAGCT
NR_170694.1:n.1204_1218delinsAAAGAACTACTAGCT