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: CA557560513

Gene:

Linked Data

dbSNP Id: rs1249506936

gnomAD v2: 5-1392584-AGGGGGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAG-A

gnomAD v3: 5-1392469-AGGGGGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAG-A

gnomAD v4: 5-1392469-AGGGGGACAGGTCACACCCAGCACACCTGCGTGGGAGCCTGGGGAG-A

MyVariant Identifiers: chr5:g.1392585_1392629del (hg19) chr5:g.1392470_1392514del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1392517_1392561del , CM000667.2:g.1392517_1392561del	GRCh38
NC_000005.9:g.1392632_1392676del , CM000667.1:g.1392632_1392676del	GRCh37
NC_000005.8:g.1445632_1445676del	NCBI36
NG_015885.1:g.57915_57959del

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