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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
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Canonical Allele Identifier:
CA1005602489
Gene: AKNAD1
HGNC
NCBI
Linked Data
gnomAD v3:
1-108875047-GTC-G
gnomAD v4:
1-108875047-GTC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.108875057_108875058del , CM000663.2:g.108875057_108875058del
GRCh38
NC_000001.10:g.109417679_109417680del , CM000663.1:g.109417679_109417680del
GRCh37
NC_000001.9:g.109219202_109219203del
NCBI36
NG_028108.1:g.3077_3078del
NG_028108.2:g.4708_4709del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357393.6:c.1-25473_1-25472del
ENSP00000349968.6:n.1-25473_1-25472del
ENST00000357393.5:c.115-25473_115-25472del
ENSP00000349968.5:n.115-25473_115-25472del
XR_001738178.1:n.103+91_103+92del
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