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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:
CA2673095762
Gene: SLC6A3
HGNC
NCBI
Linked Data
gnomAD v4:
5-1416030-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1416033del , CM000667.2:g.1416033del
GRCh38
NC_000005.9:g.1416148del , CM000667.1:g.1416148del
GRCh37
NC_000005.8:g.1469148del
NCBI36
NG_015885.1:g.34398del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270349.12:c.1031+67del
MANE Select
ENSP00000270349.9:n.1031+67del
ENST00000270349.11:c.1031+67del
ENSP00000270349.9:n.1031+67del
ENST00000511750.1:n.481+67del
NM_001044.4:c.1031+67del
NP_001035.1:n.1031+67del
NM_001044.5:c.1031+67del
MANE Select
NP_001035.1:n.1031+67del
Search 100 bp 5'
Search 100 bp 3'