Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA1061286789

Gene: TLR1 HGNC NCBI

Linked Data

dbSNP Id: rs1727182995

gnomAD v3: 4-38811277-ACTTT-A

gnomAD v4: 4-38811277-ACTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.38811282_38811285del , CM000666.2:g.38811282_38811285del	GRCh38
NC_000004.11:g.38812903_38812906del , CM000666.1:g.38812903_38812906del	GRCh37
NC_000004.10:g.38489298_38489301del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000506146.5:c.-352-6088_-352-6085del	ENSP00000423725.1:n.-352-6088_-352-6085de...

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