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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:
CA2577372709
Gene: SNTA1
HGNC
NCBI
Linked Data
gnomAD v4:
20-33443708-CG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.33443713del , CM000682.2:g.33443713del
GRCh38
NC_000020.10:g.32031519del , CM000682.1:g.32031519del
GRCh37
NC_000020.9:g.31495180del
NCBI36
NG_011622.1:g.5184del , LRG_332:g.5184del
Transcript Alleles
HGVS
Amino-acid change
ENST00000217381.3:c.-89del
MANE Select
ENSP00000217381.2:n.-89del
ENST00000217381.2:c.-89del
ENSP00000217381.2:n.-89del
NM_003098.2:c.-89del , LRG_332t1:c.-89del
NP_003089.1:n.-89del
XM_005260517.1:c.-89del
XP_005260574.1:n.-89del
XM_011529007.1:c.-89del
XP_011527309.1:n.-89del
XM_011529008.1:c.-89del
XP_011527310.1:n.-89del
XR_936612.1:n.145del
NM_003098.3:c.-89del
MANE Select
NP_003089.1:n.-89del
Search 100 bp 5'
Search 100 bp 3'