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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:
CA572945253
Gene: STEAP1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1405852482
gnomAD v2:
7-22760459-T-TAATTAAGA
gnomAD v3:
7-22720840-T-TAATTAAGA
gnomAD v4:
7-22720840-T-TAATTAAGA
MyVariant Identifiers:
chr7:g.22760459_22760460insAATTAAGA (hg19)
chr7:g.22720840_22720841insAATTAAGA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.22720844_22720851dup , CM000669.2:g.22720844_22720851dup
GRCh38
NC_000007.13:g.22760463_22760470dup , CM000669.1:g.22760463_22760470dup
GRCh37
NC_000007.12:g.22726988_22726995dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650428.1:n.46+6720_46+6727dup
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