Canonical Allele Identifier: CA1796774863

Gene: TPD52

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80037733_80037735delinsAAG , CM000670.2:g.80037733_80037735delinsAAG	GRCh38
NC_000008.10:g.80949968_80949970delinsAAG , CM000670.1:g.80949968_80949970delinsAAG	GRCh37
NC_000008.9:g.81112523_81112525delinsAAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.*381_*383delinsCTT MANE Select	ENSP00000429915.1:n.*381_*383delinsCTT
ENST00000379096.9:c.*381_*383delinsCTT	ENSP00000368390.4:n.*381_*383delinsCTT
ENST00000379097.7:c.*381_*383delinsCTT	ENSP00000368391.3:n.*381_*383delinsCTT
ENST00000448733.3:c.*381_*383delinsCTT	ENSP00000410222.2:n.*381_*383delinsCTT
ENST00000517427.5:c.*381_*383delinsCTT	ENSP00000429351.1:n.*381_*383delinsCTT
ENST00000517462.6:c.*739_*741delinsCTT	ENSP00000429708.1:n.*739_*741delinsCTT
ENST00000518937.5:c.*381_*383delinsCTT	ENSP00000429915.1:n.*381_*383delinsCTT
ENST00000519303.6:c.*381_*383delinsCTT	ENSP00000428951.1:n.*381_*383delinsCTT
ENST00000520527.5:c.*381_*383delinsCTT	ENSP00000429309.1:n.*381_*383delinsCTT
ENST00000522938.5:c.555+4885_555+4887delinsCTT	ENSP00000430858.2:n.555+4885_555+4887delinsCTT
ENST00000523395.5:n.715_717delinsCTT
NM_001025252.2:c.*381_*383delinsCTT	NP_001020423.1:n.*381_*383delinsCTT
NM_001025253.2:c.*381_*383delinsCTT	NP_001020424.1:n.*381_*383delinsCTT
NM_001287140.1:c.*381_*383delinsCTT	NP_001274069.1:n.*381_*383delinsCTT
NM_001287142.1:c.*381_*383delinsCTT	NP_001274071.1:n.*381_*383delinsCTT
NM_001287143.1:c.*381_*383delinsCTT	NP_001274072.1:n.*381_*383delinsCTT
NM_001287144.1:c.*491_*493delinsCTT	NP_001274073.1:n.*491_*493delinsCTT
NM_005079.3:c.*381_*383delinsCTT	NP_005070.1:n.*381_*383delinsCTT
NR_105033.1:n.1573_1575delinsCTT
NR_105034.1:n.1036_1038delinsCTT
NR_105035.1:n.1222_1224delinsCTT
NR_105036.1:n.1166_1168delinsCTT
NR_105037.1:n.1167_1169delinsCTT
NM_001025252.3:c.*381_*383delinsCTT	NP_001020423.1:n.*381_*383delinsCTT
NM_001025253.3:c.*381_*383delinsCTT MANE Select	NP_001020424.1:n.*381_*383delinsCTT
NM_001287140.2:c.*381_*383delinsCTT	NP_001274069.1:n.*381_*383delinsCTT
NM_001287143.2:c.*381_*383delinsCTT	NP_001274072.1:n.*381_*383delinsCTT
NM_001287144.2:c.*491_*493delinsCTT	NP_001274073.1:n.*491_*493delinsCTT
NM_005079.4:c.*381_*383delinsCTT	NP_005070.1:n.*381_*383delinsCTT
NR_105033.2:n.1572_1574delinsCTT
NR_105034.2:n.941_943delinsCTT
NR_105035.2:n.1127_1129delinsCTT
NR_105036.2:n.1087_1089delinsCTT
NR_105037.2:n.1088_1090delinsCTT
NM_001287142.2:c.*381_*383delinsCTT	NP_001274071.1:n.*381_*383delinsCTT
NM_001387778.1:c.435+4885_435+4887delinsCTT	NP_001374707.1:n.435+4885_435+4887delinsCTT
NM_001387779.1:c.436-3892_436-3890delinsCTT	NP_001374708.1:n.436-3892_436-3890delinsCTT
NM_001387780.1:c.460-3892_460-3890delinsCTT	NP_001374709.1:n.460-3892_460-3890delinsCTT
NR_170693.1:n.1076_1078delinsCTT
NR_170694.1:n.1103_1105delinsCTT