Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA773487955

Gene: MPO HGNC NCBI

Linked Data

dbSNP Id: rs1397388804

gnomAD v3: 17-58281381-CTGACCTCAAG-C

gnomAD v4: 17-58281381-CTGACCTCAAG-C

MyVariant Identifiers: chr17:g.56358743_56358752del (hg19) chr17:g.58281382_58281391del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58281385_58281394del , CM000679.2:g.58281385_58281394del	GRCh38
NC_000017.10:g.56358746_56358755del , CM000679.1:g.56358746_56358755del	GRCh37
NC_000017.9:g.53713745_53713754del	NCBI36
NG_009629.1:g.4545_4554del , LRG_84:g.4545_4554del

Transcript Alleles

HGVS	Amino-acid change
XM_011524821.1:c.71-322_71-313del	XP_011523123.1:n.71-322_71-313del
XM_011524823.1:c.71-322_71-313del	XP_011523125.1:n.71-322_71-313del

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