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: CA639801942

Gene:

Linked Data

dbSNP Id: rs1233296008

gnomAD v2: 22-48651843-GTGGTT-G

gnomAD v3: 22-48256031-GTGGTT-G

gnomAD v4: 22-48256031-GTGGTT-G

MyVariant Identifiers: chr22:g.48651844_48651848del (hg19) chr22:g.48256032_48256036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.48256032_48256036del , CM000684.2:g.48256032_48256036del	GRCh38
NC_000022.10:g.48651844_48651848del , CM000684.1:g.48651844_48651848del	GRCh37
NC_000022.9:g.47030508_47030512del	NCBI36

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