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: CA881761478

Gene: HPN-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1210310248

gnomAD v3: 19-35068545-C-CTTGCTTTG

gnomAD v4: 19-35068545-C-CTTGCTTTG

MyVariant Identifiers: chr19:g.35559449_35559450insTTGCTTTG (hg19) chr19:g.35068545_35068546insTTGCTTTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35068548_35068555dup , CM000681.2:g.35068548_35068555dup	GRCh38
NC_000019.9:g.35559452_35559459dup , CM000681.1:g.35559452_35559459dup	GRCh37
NC_000019.8:g.40251292_40251299dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_024562.1:n.405-8775_405-8768dup

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