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: CA943274887

Gene:

Linked Data

gnomAD v3: 11-126160442-TGCAGGGGTGGAGGGAACATAATGAGAGGCTGATGTTCCTGCAGCTGGGCTGTGTTTGGAGTCTGGTGGAGTGAGGGGAGGGCAGCAGGGCAGGTCGGGGCAGCAGGACGGAGGGCCAG-T

gnomAD v4: 11-126160442-TGCAGGGGTGGAGGGAACATAATGAGAGGCTGATGTTCCTGCAGCTGGGCTGTGTTTGGAGTCTGGTGGAGTGAGGGGAGGGCAGCAGGGCAGGTCGGGGCAGCAGGACGGAGGGCCAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126160449_126160566del , CM000673.2:g.126160449_126160566del	GRCh38
NC_000011.9:g.126030344_126030461del , CM000673.1:g.126030344_126030461del	GRCh37
NC_000011.8:g.125535554_125535671del	NCBI36

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