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: CA185516672

Gene: LINC02964 HGNC NCBI

Linked Data

dbSNP Id: rs578214162

gnomAD v2: 8-126540068-GCCA-G

gnomAD v3: 8-125527826-GCCA-G

gnomAD v4: 8-125527826-GCCA-G

MyVariant Identifiers: chr8:g.126540069_126540071del (hg19) chr8:g.125527827_125527829del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125527828_125527830del , CM000670.2:g.125527828_125527830del	GRCh38
NC_000008.10:g.126540070_126540072del , CM000670.1:g.126540070_126540072del	GRCh37
NC_000008.9:g.126609252_126609254del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928628.1:n.256+54514_256+54516del
XR_001746072.1:n.583+4815_583+4817del
XR_001746073.1:n.583+4815_583+4817del

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