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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:
CA2765045800
Gene: SLC6A3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1427953_1427980del , CM000667.2:g.1427953_1427980del
GRCh38
NC_000005.9:g.1428068_1428095del , CM000667.1:g.1428068_1428095del
GRCh37
NC_000005.8:g.1481068_1481095del
NCBI36
NG_015885.1:g.22454_22481del
Transcript Alleles
HGVS
Amino-acid change
ENST00000270349.12:c.653+4489_653+4516del
MANE Select
ENSP00000270349.9:n.653+4489_653+4516del
ENST00000270349.11:c.653+4489_653+4516del
ENSP00000270349.9:n.653+4489_653+4516del
NM_001044.4:c.653+4489_653+4516del
NP_001035.1:n.653+4489_653+4516del
NM_001044.5:c.653+4489_653+4516del
MANE Select
NP_001035.1:n.653+4489_653+4516del
Search 100 bp 5'
Search 100 bp 3'