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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:
CA1005602494
Gene: AKNAD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1665546732
gnomAD v3:
1-108875077-TTG-T
gnomAD v4:
1-108875077-TTG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.108875080_108875081del , CM000663.2:g.108875080_108875081del
GRCh38
NC_000001.10:g.109417702_109417703del , CM000663.1:g.109417702_109417703del
GRCh37
NC_000001.9:g.109219225_109219226del
NCBI36
NG_028108.1:g.3100_3101del
NG_028108.2:g.4731_4732del
Transcript Alleles
HGVS
Amino-acid change
ENST00000357393.6:c.1-25503_1-25502del
ENSP00000349968.6:n.1-25503_1-25502del
ENST00000357393.5:c.115-25503_115-25502del
ENSP00000349968.5:n.115-25503_115-25502del
XR_001738178.1:n.103+61_103+62del
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