Canonical Allele Identifier: CA1796805237

Gene: TPD52

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80119549_80119550delinsGA , CM000670.2:g.80119549_80119550delinsGA	GRCh38
NC_000008.10:g.81031784_81031785delinsGA , CM000670.1:g.81031784_81031785delinsGA	GRCh37
NC_000008.9:g.81194339_81194340delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.19+51875_19+51876delinsTC MANE Select	ENSP00000429915.1:n.19+51875_19+51876delinsTC
ENST00000379096.9:c.19+51875_19+51876delinsTC	ENSP00000368390.4:n.19+51875_19+51876delinsTC
ENST00000518517.5:c.89+265_89+266delinsTC	ENSP00000430421.1:n.89+265_89+266delinsTC
ENST00000518937.5:c.19+51875_19+51876delinsTC	ENSP00000429915.1:n.19+51875_19+51876delinsTC
ENST00000519250.5:n.236-54957_236-54956delinsTC
ENST00000519303.6:c.-423+51471_-423+51472delinsTC	ENSP00000428951.1:n.-423+51471_-423+51472delinsTC
ENST00000520795.5:c.177+51657_177+51658delinsTC
ENST00000521241.6:c.19+51875_19+51876delinsTC	ENSP00000430323.1:n.19+51875_19+51876delinsTC
ENST00000521354.5:c.19+51875_19+51876delinsTC	ENSP00000430646.1:n.19+51875_19+51876delinsTC
ENST00000521561.1:n.451+38887_451+38888delinsTC
ENST00000523753.5:c.89+265_89+266delinsTC	ENSP00000430140.1:n.89+265_89+266delinsTC
NM_001025253.2:c.19+51875_19+51876delinsTC	NP_001020424.1:n.19+51875_19+51876delinsTC
NM_001287144.1:c.19+51875_19+51876delinsTC	NP_001274073.1:n.19+51875_19+51876delinsTC
NM_005079.3:c.19+51875_19+51876delinsTC	NP_005070.1:n.19+51875_19+51876delinsTC
NR_105034.1:n.235+51875_235+51876delinsTC
NR_105035.1:n.305+265_305+266delinsTC
NR_105036.1:n.180+51471_180+51472delinsTC
NR_105037.1:n.250+265_250+266delinsTC
NM_001025253.3:c.19+51875_19+51876delinsTC MANE Select	NP_001020424.1:n.19+51875_19+51876delinsTC
NM_001287144.2:c.19+51875_19+51876delinsTC	NP_001274073.1:n.19+51875_19+51876delinsTC
NM_005079.4:c.19+51875_19+51876delinsTC	NP_005070.1:n.19+51875_19+51876delinsTC
NR_105034.2:n.140+51875_140+51876delinsTC
NR_105035.2:n.210+265_210+266delinsTC
NR_105036.2:n.101+51471_101+51472delinsTC
NR_105037.2:n.171+265_171+266delinsTC
NM_001387778.1:c.19+51875_19+51876delinsTC	NP_001374707.1:n.19+51875_19+51876delinsTC
NM_001387779.1:c.19+51875_19+51876delinsTC	NP_001374708.1:n.19+51875_19+51876delinsTC
NM_001387780.1:c.-65-9615_-65-9614delinsTC	NP_001374709.1:n.-65-9615_-65-9614delinsTC
NR_170693.1:n.140+51875_140+51876delinsTC
NR_170694.1:n.140+51875_140+51876delinsTC