Canonical Allele Identifier: CA1796805292

Gene: TPD52

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80119633_80119634delinsCT , CM000670.2:g.80119633_80119634delinsCT	GRCh38
NC_000008.10:g.81031868_81031869delinsCT , CM000670.1:g.81031868_81031869delinsCT	GRCh37
NC_000008.9:g.81194423_81194424delinsCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.19+51791_19+51792delinsAG MANE Select	ENSP00000429915.1:n.19+51791_19+51792delinsAG
ENST00000379096.9:c.19+51791_19+51792delinsAG	ENSP00000368390.4:n.19+51791_19+51792delinsAG
ENST00000518517.5:c.89+181_89+182delinsAG	ENSP00000430421.1:n.89+181_89+182delinsAG
ENST00000518937.5:c.19+51791_19+51792delinsAG	ENSP00000429915.1:n.19+51791_19+51792delinsAG
ENST00000519250.5:n.236-55041_236-55040delinsAG
ENST00000519303.6:c.-423+51387_-423+51388delinsAG	ENSP00000428951.1:n.-423+51387_-423+51388delinsAG
ENST00000520795.5:c.177+51573_177+51574delinsAG
ENST00000521241.6:c.19+51791_19+51792delinsAG	ENSP00000430323.1:n.19+51791_19+51792delinsAG
ENST00000521354.5:c.19+51791_19+51792delinsAG	ENSP00000430646.1:n.19+51791_19+51792delinsAG
ENST00000521561.1:n.451+38803_451+38804delinsAG
ENST00000523753.5:c.89+181_89+182delinsAG	ENSP00000430140.1:n.89+181_89+182delinsAG
NM_001025253.2:c.19+51791_19+51792delinsAG	NP_001020424.1:n.19+51791_19+51792delinsAG
NM_001287144.1:c.19+51791_19+51792delinsAG	NP_001274073.1:n.19+51791_19+51792delinsAG
NM_005079.3:c.19+51791_19+51792delinsAG	NP_005070.1:n.19+51791_19+51792delinsAG
NR_105034.1:n.235+51791_235+51792delinsAG
NR_105035.1:n.305+181_305+182delinsAG
NR_105036.1:n.180+51387_180+51388delinsAG
NR_105037.1:n.250+181_250+182delinsAG
NM_001025253.3:c.19+51791_19+51792delinsAG MANE Select	NP_001020424.1:n.19+51791_19+51792delinsAG
NM_001287144.2:c.19+51791_19+51792delinsAG	NP_001274073.1:n.19+51791_19+51792delinsAG
NM_005079.4:c.19+51791_19+51792delinsAG	NP_005070.1:n.19+51791_19+51792delinsAG
NR_105034.2:n.140+51791_140+51792delinsAG
NR_105035.2:n.210+181_210+182delinsAG
NR_105036.2:n.101+51387_101+51388delinsAG
NR_105037.2:n.171+181_171+182delinsAG
NM_001387778.1:c.19+51791_19+51792delinsAG	NP_001374707.1:n.19+51791_19+51792delinsAG
NM_001387779.1:c.19+51791_19+51792delinsAG	NP_001374708.1:n.19+51791_19+51792delinsAG
NM_001387780.1:c.-65-9699_-65-9698delinsAG	NP_001374709.1:n.-65-9699_-65-9698delinsAG
NR_170693.1:n.140+51791_140+51792delinsAG
NR_170694.1:n.140+51791_140+51792delinsAG