Canonical Allele Identifier: CA2617271752

Gene: TAPBPL

Linked Data

• gnomAD v4: 12-6471082-T-TGAACGCATGAACCTTGTGGGTCAGGATGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6471082_6471083insGAACGCATGAACCTTGTGGGTCAGGATGAGA , CM000674.2:g.6471082_6471083insGAACGCATGAACCTTGTGGGTCAGGATGAGA	GRCh38
NC_000012.11:g.6580248_6580249insGAACGCATGAACCTTGTGGGTCAGGATGAGA , CM000674.1:g.6580248_6580249insGAACGCATGAACCTTGTGGGTCAGGATGAGA	GRCh37
NC_000012.10:g.6450509_6450510insGAACGCATGAACCTTGTGGGTCAGGATGAGA	NCBI36
NG_042188.1:g.4817_4818insTCTCATCCTGACCCACAAGGTTCATGCGTTC
NG_042188.2:g.4817_4818insTCTCATCCTGACCCACAAGGTTCATGCGTTC

Transcript Alleles

HGVS	Amino-acid Change
XR_001748777.2:n.2349_2350insGAACGCATGAACCTTGTGGGTCAGGATGAGA
XR_001748778.2:n.2346_2347insGAACGCATGAACCTTGTGGGTCAGGATGAGA