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: CA993517275

Gene: LDLR-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs2077054083

gnomAD v3: 19-11089314-CTT-C

gnomAD v4: 19-11089314-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11089315_11089316del , CM000681.2:g.11089315_11089316del	GRCh38
NC_000019.9:g.11199991_11199992del , CM000681.1:g.11199991_11199992del	GRCh37
NC_000019.8:g.11060991_11060992del	NCBI36
NG_009060.1:g.4935_4936del , LRG_274:g.4935_4936del

Transcript Alleles

HGVS	Amino-acid change
NR_163945.1:n.344_345del

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