Canonical Allele Identifier: CA6399870
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs746053809
ExAC: 12:5154754 G / GT
gnomAD v2: 12-5154754-G-GT
gnomAD v4: 12-5045588-G-GT
MyVariant Identifiers: chr12:g.5154754_5154755insT (hg19) chr12:g.5045588_5045589insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045589dup , CM000674.2:g.5045589dup GRCh38
NC_000012.11:g.5154755dup , CM000674.1:g.5154755dup GRCh37
NC_000012.10:g.5025016dup NCBI36
NG_012198.1:g.6671dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1442dup MANE Select ENSP00000252321.3:p.Tyr483LeufsTer?
ENST00000252321.4:c.1442dup ENSP00000252321.3:p.Tyr483LeufsTer?
NM_002234.3:c.1442dup NP_002225.2:p.Tyr483LeufsTer?
NM_002234.4:c.1442dup MANE Select NP_002225.2:p.Tyr483LeufsTer?
Search 100 bp 5'
Search 100 bp 3'