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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:
CA572945089
Gene: STEAP1B
HGNC
NCBI
Linked Data
gnomAD v2:
7-22756510-CTT-C
gnomAD v3:
7-22716891-CTT-C
gnomAD v4:
7-22716891-CTT-C
MyVariant Identifiers:
chr7:g.22756511_22756512del (hg19)
chr7:g.22716892_22716893del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22716902_22716903del , CM000669.2:g.22716902_22716903del
GRCh38
NC_000007.13:g.22756521_22756522del , CM000669.1:g.22756521_22756522del
GRCh37
NC_000007.12:g.22723046_22723047del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000650428.1:n.46+10675_46+10676del
Search 100 bp 5'
Search 100 bp 3'