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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:
CA2013430588
Gene: KCNA5
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.5044299_5044300delinsCA , CM000674.2:g.5044299_5044300delinsCA
GRCh38
NC_000012.11:g.5153465_5153466delinsCA , CM000674.1:g.5153465_5153466delinsCA
GRCh37
NC_000012.10:g.5023726_5023727delinsCA
NCBI36
NG_012198.1:g.5381_5382delinsCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000252321.5:c.152_153delinsCA
MANE Select
ENSP00000252321.3:p.Pro51=
ENST00000252321.4:c.152_153delinsCA
ENSP00000252321.3:p.Pro51=
NM_002234.3:c.152_153delinsCA
NP_002225.2:p.Pro51=
NM_002234.4:c.152_153delinsCA
MANE Select
NP_002225.2:p.Pro51=
Search 100 bp 5'
Search 100 bp 3'