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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:
CA727875343
Gene: SLC6A4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1315295273
gnomAD v3:
17-30197903-A-AT
gnomAD v4:
17-30197903-A-AT
MyVariant Identifiers:
chr17:g.28524921_28524922insT (hg19)
chr17:g.30197903_30197904insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.30197908dup , CM000679.2:g.30197908dup
GRCh38
NC_000017.10:g.28524926dup , CM000679.1:g.28524926dup
GRCh37
NC_000017.9:g.25549052dup
NCBI36
NG_011747.2:g.43033dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000650711.1:c.*552dup
MANE Select
ENSP00000498537.1:n.*552dup
ENST00000261707.7:c.*552dup
ENSP00000261707.3:n.*552dup
ENST00000401766.6:c.*552dup
ENSP00000385822.2:n.*552dup
NM_001045.5:c.*552dup
NP_001036.1:n.*552dup
NM_001045.6:c.*552dup
MANE Select
NP_001036.1:n.*552dup
Search 100 bp 5'
Search 100 bp 3'