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: CA31357273

Gene: FCER1A HGNC NCBI

Linked Data

dbSNP Id: rs764916953

gnomAD v2: 1-159258397-CTT-C

gnomAD v3: 1-159288607-CTT-C

gnomAD v4: 1-159288607-CTT-C

MyVariant Identifiers: chr1:g.159258398_159258399del (hg19) chr1:g.159288608_159288609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.159288608_159288609del , CM000663.2:g.159288608_159288609del	GRCh38
NC_000001.10:g.159258398_159258399del , CM000663.1:g.159258398_159258399del	GRCh37
NC_000001.9:g.157525022_157525023del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NM_002001.3:c.-97-1108_-97-1107del	NP_001992.1:n.-97-1108_-97-1107del
NM_002001.4:c.-97-1108_-97-1107del	NP_001992.1:n.-97-1108_-97-1107del

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