Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA587570146

Gene:

Linked Data

ClinVar Variation Id: 1166657

ClinVar RCV Id: RCV001515105

dbSNP Id: rs1563906333

gnomAD v2: 9-35657729-G-GTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC

gnomAD v3: 9-35657732-G-GTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC

gnomAD v4: 9-35657732-G-GTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC

MyVariant Identifiers: chr9:g.35657729_35657730insTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC (hg19) chr9:g.35657732_35657733insTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35657733_35657802dup , CM000671.2:g.35657733_35657802dup	GRCh38
NC_000009.11:g.35657730_35657799dup , CM000671.1:g.35657730_35657799dup	GRCh37
NC_000009.10:g.35647730_35647799dup	NCBI36
NG_017041.1:g.5217_5286dup , LRG_163:g.5217_5286dup
NG_033120.1:g.4444_4513dup

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