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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:
CA1522637766
Gene: SLC6A3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1416118_1416121delinsCTTG , CM000667.2:g.1416118_1416121delinsCTTG
GRCh38
NC_000005.9:g.1416233_1416236delinsCTTG , CM000667.1:g.1416233_1416236delinsCTTG
GRCh37
NC_000005.8:g.1469233_1469236delinsCTTG
NCBI36
NG_015885.1:g.34308_34311delinsCAAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000270349.12:c.1008_1011delinsCAAG
MANE Select
ENSP00000270349.9:p.Asn336=
ENST00000270349.11:c.1008_1011delinsCAAG
ENSP00000270349.9:p.Asn336=
ENST00000511750.1:n.458_461delinsCAAG
NM_001044.4:c.1008_1011delinsCAAG
NP_001035.1:p.Asn336=
NM_001044.5:c.1008_1011delinsCAAG
MANE Select
NP_001035.1:p.Asn336=
Search 100 bp 5'
Search 100 bp 3'