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: CA582254344

Gene:

Linked Data

dbSNP Id: rs1451360459

gnomAD v2: 8-61194173-GGCGACTCCTGCT-G

gnomAD v3: 8-60281614-GGCGACTCCTGCT-G

gnomAD v4: 8-60281614-GGCGACTCCTGCT-G

MyVariant Identifiers: chr8:g.61194174_61194185del (hg19) chr8:g.60281615_60281626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60281615_60281626del , CM000670.2:g.60281615_60281626del	GRCh38
NC_000008.10:g.61194174_61194185del , CM000670.1:g.61194174_61194185del	GRCh37
NC_000008.9:g.61356728_61356739del	NCBI36
NG_023193.1:g.4770_4781del
NG_023193.2:g.4770_4781del

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