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: CA1139514808

Gene:

Linked Data

dbSNP Id: rs2044310136

gnomAD v3: Y-17153978-TAGAG-T

gnomAD v4: Y-17153978-TAGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.17153988_17153991del , CM000686.2:g.17153988_17153991del	GRCh38
NC_000024.9:g.19265868_19265871del , CM000686.1:g.19265868_19265871del	GRCh37
NC_000024.8:g.17775262_17775265del	NCBI36

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