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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:
CA337623247
Gene:
Linked Data
dbSNP Id:
rs776985940
gnomAD v3:
Y-8606038-CCT-C
gnomAD v4:
Y-8606038-CCT-C
MyVariant Identifiers:
chrY:g.8474080_8474081del (hg19)
chrY:g.8606039_8606040del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.8606041_8606042del , CM000686.2:g.8606041_8606042del
GRCh38
NC_000024.9:g.8474082_8474083del , CM000686.1:g.8474082_8474083del
GRCh37
NC_000024.8:g.8534082_8534083del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000624507.1:c.53-1009_53-1008del
ENSP00000485522.1:n.53-1009_53-1008del
ENST00000624593.1:c.92+16812_92+16813del
ENSP00000485106.1:n.92+16812_92+16813del
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