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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:
CA2814633492
Gene: SULT2A1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.47881837_47881839del , CM000681.2:g.47881837_47881839del
GRCh38
NC_000019.9:g.48385094_48385096del , CM000681.1:g.48385094_48385096del
GRCh37
NC_000019.8:g.53076906_53076908del
NCBI36
NG_016745.1:g.9560_9562del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000222002.4:c.472+246_472+248del
MANE Select
ENSP00000222002.2:n.472+246_472+248del
ENST00000222002.3:c.472+246_472+248del
ENSP00000222002.2:n.472+246_472+248del
NM_003167.3:c.472+246_472+248del
NP_003158.2:n.472+246_472+248del
NM_003167.4:c.472+246_472+248del
MANE Select
NP_003158.2:n.472+246_472+248del
Search 100 bp 5'
Search 100 bp 3'