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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:
CA2743944
Gene: CRYGS
HGNC
NCBI
Linked Data
dbSNP Id:
rs773186444
ExAC:
3:186257360 AAAATTTTTGTCTTCATAGAAAGTAATCTG / A
gnomAD v2:
3-186257360-AAAATTTTTGTCTTCATAGAAAGTAATCTG-A
gnomAD v3:
3-186539571-AAAATTTTTGTCTTCATAGAAAGTAATCTG-A
gnomAD v4:
3-186539571-AAAATTTTTGTCTTCATAGAAAGTAATCTG-A
MyVariant Identifiers:
chr3:g.186257361_186257389del (hg19)
chr3:g.186539572_186539600del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186539574_186539602del , CM000665.2:g.186539574_186539602del
GRCh38
NC_000003.11:g.186257363_186257391del , CM000665.1:g.186257363_186257391del
GRCh37
NC_000003.10:g.187740057_187740085del
NCBI36
NG_009829.1:g.9779_9807del
Transcript Alleles
HGVS
Amino-acid change
ENST00000307944.6:c.22-3_47del
ENST00000307944.5:c.22-3_47del
ENST00000392499.6:c.22-3_47del
ENST00000460288.1:n.921_949del
NM_017541.2:c.22-3_47del
NM_017541.3:c.22-3_47del
NM_017541.4:c.22-3_47del
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