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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:
CA28585126
Gene: AKNAD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs386634454
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.108875055_108875057delinsATA , CM000663.2:g.108875055_108875057delinsATA
GRCh38
NC_000001.10:g.109417677_109417679delinsATA , CM000663.1:g.109417677_109417679delinsATA
GRCh37
NC_000001.9:g.109219200_109219202delinsATA
NCBI36
NG_028108.1:g.3075_3077delinsATA
NG_028108.2:g.4706_4708delinsATA
Transcript Alleles
HGVS
Amino-acid change
ENST00000357393.6:c.1-25481_1-25479delinsTAT
ENSP00000349968.6:n.1-25481_1-25479delinsTAT
ENST00000357393.5:c.115-25481_115-25479delinsTAT
ENSP00000349968.5:n.115-25481_115-25479delinsTAT
XR_001738178.1:n.103+83_103+85delinsTAT
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