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: CA993253485

Gene: ELAVL1 HGNC NCBI
RAB11B-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1971223589

gnomAD v3: 19-8376874-AC-A

gnomAD v4: 19-8376874-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8376877del , CM000681.2:g.8376877del	GRCh38
NC_000019.9:g.8441761del , CM000681.1:g.8441761del	GRCh37
NC_000019.8:g.8347761del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000351593.9:c.-88+68131del (ELAVL1)	ENSP00000264073.6:n.-88+68131del
NR_038237.1:n.789+87del (RAB11B-AS1)

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