Canonical Allele Identifier: CA916083285
Gene: KCNA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 859386
ClinVar RCV Id: RCV001065486
dbSNP Id: rs1862758690
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045051_5045052delinsCA , CM000674.2:g.5045051_5045052delinsCA GRCh38
NC_000012.11:g.5154217_5154218delinsCA , CM000674.1:g.5154217_5154218delinsCA GRCh37
NC_000012.10:g.5024478_5024479delinsCA NCBI36
NG_012198.1:g.6133_6134delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.904_905delinsCA MANE Select ENSP00000252321.3:p.Gly302Gln
ENST00000252321.4:c.904_905delinsCA ENSP00000252321.3:p.Gly302Gln
NM_002234.3:c.904_905delinsCA NP_002225.2:p.Gly302Gln
NM_002234.4:c.904_905delinsCA MANE Select NP_002225.2:p.Gly302Gln
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