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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:
CA2013431076
Gene: KCNA5
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.5045112_5045113delinsAC , CM000674.2:g.5045112_5045113delinsAC
GRCh38
NC_000012.11:g.5154278_5154279delinsAC , CM000674.1:g.5154278_5154279delinsAC
GRCh37
NC_000012.10:g.5024539_5024540delinsAC
NCBI36
NG_012198.1:g.6194_6195delinsAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000252321.5:c.965_966delinsAC
MANE Select
ENSP00000252321.3:p.Asp322=
ENST00000252321.4:c.965_966delinsAC
ENSP00000252321.3:p.Asp322=
NM_002234.3:c.965_966delinsAC
NP_002225.2:p.Asp322=
NM_002234.4:c.965_966delinsAC
MANE Select
NP_002225.2:p.Asp322=
Search 100 bp 5'
Search 100 bp 3'