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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:
CA973584441
Gene: HBA1
HGNC
NCBI
Linked Data
gnomAD v3:
16-176701-TCAGAGAGAACC-T
gnomAD v4:
16-176701-TCAGAGAGAACC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.176704_176714del , CM000678.2:g.176704_176714del
GRCh38
NC_000016.9:g.226703_226713del , CM000678.1:g.226703_226713del
GRCh37
NC_000016.8:g.166703_166713del
NCBI36
NG_000006.1:g.37567_37577del
NG_059186.1:g.5054_5064del
Transcript Alleles
HGVS
Amino-acid change
ENST00000320868.9:c.-13_-3del
MANE Select
ENSP00000322421.5:n.-13_-3del
ENST00000472694.1:n.7_17del
NM_000558.4:c.-13_-3del
NP_000549.1:n.-13_-3del
NM_000558.5:c.-13_-3del
MANE Select
NP_000549.1:n.-13_-3del
Search 100 bp 5'
Search 100 bp 3'