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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:
CA2673095343
Gene: SLC6A3
HGNC
NCBI
Linked Data
gnomAD v4:
5-1411173-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1411176del , CM000667.2:g.1411176del
GRCh38
NC_000005.9:g.1411291del , CM000667.1:g.1411291del
GRCh37
NC_000005.8:g.1464291del
NCBI36
NG_015885.1:g.39255del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270349.12:c.1269+69del
MANE Select
ENSP00000270349.9:n.1269+69del
ENST00000270349.11:c.1269+69del
ENSP00000270349.9:n.1269+69del
NM_001044.4:c.1269+69del
NP_001035.1:n.1269+69del
NM_001044.5:c.1269+69del
MANE Select
NP_001035.1:n.1269+69del
Search 100 bp 5'
Search 100 bp 3'