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: CA934297118

Gene:

Linked Data

dbSNP Id: rs1858053115

gnomAD v3: 11-636720-TGAGCTAGGCGTCGGCGGTTGAGTCGGGCGCGGAGTCGGGGGCAGGGGGAGCGGGCGTGGAGGGTGCGCACGAGGTCGAGGCGAGTCCGCGGGGGAGGCGGGCA-T

gnomAD v4: 11-636720-TGAGCTAGGCGTCGGCGGTTGAGTCGGGCGCGGAGTCGGGGGCAGGGGGAGCGGGCGTGGAGGGTGCGCACGAGGTCGAGGCGAGTCCGCGGGGGAGGCGGGCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.636725_636827del , CM000673.2:g.636725_636827del	GRCh38
NC_000011.9:g.636725_636827del , CM000673.1:g.636725_636827del	GRCh37
NC_000011.8:g.626725_626827del	NCBI36
NG_021241.1:g.4421_4523del

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