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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:
CA28585134
Gene: AKNAD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1003888127
MyVariant Identifiers:
chr1:g.109417679_109417680insTA (hg19)
chr1:g.108875057_108875058insTA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.108875066_108875067dup , CM000663.2:g.108875066_108875067dup
GRCh38
NC_000001.10:g.109417688_109417689dup , CM000663.1:g.109417688_109417689dup
GRCh37
NC_000001.9:g.109219211_109219212dup
NCBI36
NG_028108.1:g.3086_3087dup
NG_028108.2:g.4717_4718dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000357393.6:c.1-25483_1-25482dup
ENSP00000349968.6:n.1-25483_1-25482dup
ENST00000357393.5:c.115-25483_115-25482dup
ENSP00000349968.5:n.115-25483_115-25482dup
XR_001738178.1:n.103+81_103+82dup
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