Canonical Allele Identifier: CA2617271720
Gene: TAPBPL HGNC NCBI

Linked Data

gnomAD v4: 12-6471069-T-TGGCCCCCCTCCCTGGGGGTGGCCCGGTCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6471071_6471072insCCCCCCTCCCTGGGGGTGGCCCGGTCCGG , CM000674.2:g.6471071_6471072insCCCCCCTCCCTGGGGGTGGCCCGGTCCGG GRCh38
NC_000012.11:g.6580237_6580238insCCCCCCTCCCTGGGGGTGGCCCGGTCCGG , CM000674.1:g.6580237_6580238insCCCCCCTCCCTGGGGGTGGCCCGGTCCGG GRCh37
NC_000012.10:g.6450498_6450499insCCCCCCTCCCTGGGGGTGGCCCGGTCCGG NCBI36
NG_042188.1:g.4830_4831insGGACCGGGCCACCCCCAGGGAGGGGGGCC
NG_042188.2:g.4830_4831insGGACCGGGCCACCCCCAGGGAGGGGGGCC

Transcript Alleles

HGVS Amino-acid Change
XR_001748777.2:n.2338_2339insCCCCCCTCCCTGGGGGTGGCCCGGTCCGG
XR_001748778.2:n.2335_2336insCCCCCCTCCCTGGGGGTGGCCCGGTCCGG
Search 100 bp 5'
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