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: CA783065670

Gene: NDUFV2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1481863671

gnomAD v3: 18-9134359-CTCTG-C

gnomAD v4: 18-9134359-CTCTG-C

MyVariant Identifiers: chr18:g.9134358_9134361del (hg19) chr18:g.9134360_9134363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.9134361_9134364del , CM000680.2:g.9134361_9134364del	GRCh38
NC_000018.9:g.9134359_9134362del , CM000680.1:g.9134359_9134362del	GRCh37
NC_000018.8:g.9124359_9124362del	NCBI36
NG_013355.1:g.36732_36735del
NG_047134.1:g.2609_2612del

Transcript Alleles

HGVS	Amino-acid Change
NR_110771.1:n.358-853_358-850del
NR_110772.1:n.358-853_358-850del

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