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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:
CA1522644003
Gene: SLC6A3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1427978_1427980delinsAAC , CM000667.2:g.1427978_1427980delinsAAC
GRCh38
NC_000005.9:g.1428093_1428095delinsAAC , CM000667.1:g.1428093_1428095delinsAAC
GRCh37
NC_000005.8:g.1481093_1481095delinsAAC
NCBI36
NG_015885.1:g.22449_22451delinsGTT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270349.12:c.653+4484_653+4486delinsGTT
MANE Select
ENSP00000270349.9:n.653+4484_653+4486delinsGTT
ENST00000270349.11:c.653+4484_653+4486delinsGTT
ENSP00000270349.9:n.653+4484_653+4486delinsGTT
NM_001044.4:c.653+4484_653+4486delinsGTT
NP_001035.1:n.653+4484_653+4486delinsGTT
NM_001044.5:c.653+4484_653+4486delinsGTT
MANE Select
NP_001035.1:n.653+4484_653+4486delinsGTT
Search 100 bp 5'
Search 100 bp 3'