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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:
CA2652478579
Gene: SNTA1
HGNC
NCBI
Linked Data
gnomAD v4:
20-33443708-C-CG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.33443713dup , CM000682.2:g.33443713dup
GRCh38
NC_000020.10:g.32031519dup , CM000682.1:g.32031519dup
GRCh37
NC_000020.9:g.31495180dup
NCBI36
NG_011622.1:g.5184dup , LRG_332:g.5184dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000217381.3:c.-89dup
MANE Select
ENSP00000217381.2:n.-89dup
ENST00000217381.2:c.-89dup
ENSP00000217381.2:n.-89dup
NM_003098.2:c.-89dup , LRG_332t1:c.-89dup
NP_003089.1:n.-89dup
XM_005260517.1:c.-89dup
XP_005260574.1:n.-89dup
XM_011529007.1:c.-89dup
XP_011527309.1:n.-89dup
XM_011529008.1:c.-89dup
XP_011527310.1:n.-89dup
XR_936612.1:n.145dup
NM_003098.3:c.-89dup
MANE Select
NP_003089.1:n.-89dup
Search 100 bp 5'
Search 100 bp 3'