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: CA590937527

Gene:

Linked Data

dbSNP Id: rs3216733

gnomAD v2: 9-128003788-GCC-G

gnomAD v3: 9-125241509-GCC-G

gnomAD v4: 9-125241509-GCC-G

MyVariant Identifiers: chr9:g.128003789_128003790del (hg19) chr9:g.125241510_125241511del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125241516_125241517del , CM000671.2:g.125241516_125241517del	GRCh38
NC_000009.11:g.128003795_128003796del , CM000671.1:g.128003795_128003796del	GRCh37
NC_000009.10:g.127043616_127043617del	NCBI36
NG_027761.1:g.4877_4878del

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