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: CA526577027

Gene: FCER1A HGNC NCBI

Linked Data

dbSNP Id: rs1269283224

gnomAD v2: 1-159271879-GGCTTGTGATTGT-G

gnomAD v3: 1-159302089-GGCTTGTGATTGT-G

gnomAD v4: 1-159302089-GGCTTGTGATTGT-G

MyVariant Identifiers: chr1:g.159271880_159271891del (hg19) chr1:g.159302090_159302101del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.159302093_159302104del , CM000663.2:g.159302093_159302104del	GRCh38
NC_000001.10:g.159271883_159271894del , CM000663.1:g.159271883_159271894del	GRCh37
NC_000001.9:g.157538507_157538518del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000368115.5:c.-59-213_-59-202del	ENSP00000357097.1:n.-59-213_-59-202del
NM_002001.3:c.-59-213_-59-202del	NP_001992.1:n.-59-213_-59-202del
NM_002001.4:c.-59-213_-59-202del	NP_001992.1:n.-59-213_-59-202del

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