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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:
CA2536618550
Gene: ALDH1A1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.72902323_72902324insGAGT , CM000671.2:g.72902323_72902324insGAGT
GRCh38
NC_000009.11:g.75517239_75517240insGAGT , CM000671.1:g.75517239_75517240insGAGT
GRCh37
NC_000009.10:g.74707059_74707060insGAGT
NCBI36
NG_012249.1:g.55731_55732insCTCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000297785.8:c.1434-1043_1434-1042insCTCA
MANE Select
ENSP00000297785.3:n.1434-1043_1434-1042in...
ENST00000297785.7:c.1434-1043_1434-1042insCTCA
ENSP00000297785.3:n.1434-1043_1434-1042in...
NM_000689.4:c.1434-1043_1434-1042insCTCA
NP_000680.2:n.1434-1043_1434-1042insCTCA
NM_000689.5:c.1434-1043_1434-1042insCTCA
MANE Select
NP_000680.2:n.1434-1043_1434-1042insCTCA
Search 100 bp 5'
Search 100 bp 3'