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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:
CA2346939753
Gene: ADRA1D
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.4221297_4221299delinsGAA , CM000682.2:g.4221297_4221299delinsGAA
GRCh38
NC_000020.10:g.4201944_4201946delinsGAA , CM000682.1:g.4201944_4201946delinsGAA
GRCh37
NC_000020.9:g.4149944_4149946delinsGAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000379453.6:c.*224_*226delinsTTC
MANE Select
ENSP00000368766.4:n.*224_*226delinsTTC
ENST00000379453.5:c.*224_*226delinsTTC
ENSP00000368766.4:n.*224_*226delinsTTC
NM_000678.3:c.*224_*226delinsTTC
NP_000669.1:n.*224_*226delinsTTC
NM_000678.4:c.*224_*226delinsTTC
MANE Select
NP_000669.1:n.*224_*226delinsTTC
Search 100 bp 5'
Search 100 bp 3'