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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:
CA689648168
Gene: KCNA5
HGNC
NCBI
Linked Data
dbSNP Id:
rs1465557310
MyVariant Identifiers:
chr12:g.5155560del (hg19)
chr12:g.5046394del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.5046397del , CM000674.2:g.5046397del
GRCh38
NC_000012.11:g.5155563del , CM000674.1:g.5155563del
GRCh37
NC_000012.10:g.5025824del
NCBI36
NG_012198.1:g.7479del
Transcript Alleles
HGVS
Amino-acid change
ENST00000252321.5:c.*408del
MANE Select
ENSP00000252321.3:n.*408del
ENST00000252321.4:c.*408del
ENSP00000252321.3:n.*408del
NM_002234.3:c.*408del
NP_002225.2:n.*408del
NM_002234.4:c.*408del
MANE Select
NP_002225.2:n.*408del
Search 100 bp 5'
Search 100 bp 3'