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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA572945252
Gene: STEAP1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1176726975
gnomAD v2:
7-22760431-CCCAGGA-C
gnomAD v3:
7-22720812-CCCAGGA-C
gnomAD v4:
7-22720812-CCCAGGA-C
MyVariant Identifiers:
chr7:g.22760432_22760437del (hg19)
chr7:g.22720813_22720818del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22720813_22720818del , CM000669.2:g.22720813_22720818del
GRCh38
NC_000007.13:g.22760432_22760437del , CM000669.1:g.22760432_22760437del
GRCh37
NC_000007.12:g.22726957_22726962del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650428.1:n.46+6750_46+6755del
Search 100 bp 5'
Search 100 bp 3'