Canonical Allele Identifier: CA2687716038

Gene: TPD52

Linked Data

• gnomAD v4: 8-80119738-GAATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.80119741_80119744del , CM000670.2:g.80119741_80119744del	GRCh38
NC_000008.10:g.81031976_81031979del , CM000670.1:g.81031976_81031979del	GRCh37
NC_000008.9:g.81194531_81194534del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000518937.6:c.19+51683_19+51686del MANE Select	ENSP00000429915.1:n.19+51683_19+51686del
ENST00000379096.9:c.19+51683_19+51686del	ENSP00000368390.4:n.19+51683_19+51686del
ENST00000518517.5:c.89+73_89+76del	ENSP00000430421.1:n.89+73_89+76del
ENST00000518937.5:c.19+51683_19+51686del	ENSP00000429915.1:n.19+51683_19+51686del
ENST00000519250.5:n.236-55149_236-55146del
ENST00000519303.6:c.-423+51279_-423+51282del	ENSP00000428951.1:n.-423+51279_-423+51282del
ENST00000520795.5:c.177+51465_177+51468del
ENST00000521241.6:c.19+51683_19+51686del	ENSP00000430323.1:n.19+51683_19+51686del
ENST00000521354.5:c.19+51683_19+51686del	ENSP00000430646.1:n.19+51683_19+51686del
ENST00000521561.1:n.451+38695_451+38698del
ENST00000523753.5:c.89+73_89+76del	ENSP00000430140.1:n.89+73_89+76del
NM_001025253.2:c.19+51683_19+51686del	NP_001020424.1:n.19+51683_19+51686del
NM_001287144.1:c.19+51683_19+51686del	NP_001274073.1:n.19+51683_19+51686del
NM_005079.3:c.19+51683_19+51686del	NP_005070.1:n.19+51683_19+51686del
NR_105034.1:n.235+51683_235+51686del
NR_105035.1:n.305+73_305+76del
NR_105036.1:n.180+51279_180+51282del
NR_105037.1:n.250+73_250+76del
NM_001025253.3:c.19+51683_19+51686del MANE Select	NP_001020424.1:n.19+51683_19+51686del
NM_001287144.2:c.19+51683_19+51686del	NP_001274073.1:n.19+51683_19+51686del
NM_005079.4:c.19+51683_19+51686del	NP_005070.1:n.19+51683_19+51686del
NR_105034.2:n.140+51683_140+51686del
NR_105035.2:n.210+73_210+76del
NR_105036.2:n.101+51279_101+51282del
NR_105037.2:n.171+73_171+76del
NM_001387778.1:c.19+51683_19+51686del	NP_001374707.1:n.19+51683_19+51686del
NM_001387779.1:c.19+51683_19+51686del	NP_001374708.1:n.19+51683_19+51686del
NM_001387780.1:c.-65-9807_-65-9804del	NP_001374709.1:n.-65-9807_-65-9804del
NR_170693.1:n.140+51683_140+51686del
NR_170694.1:n.140+51683_140+51686del