Canonical Allele Identifier: CA689645217
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1219830852
MyVariant Identifiers: chr12:g.5153946_5153947insC (hg19) chr12:g.5044780_5044781insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044781dup , CM000674.2:g.5044781dup GRCh38
NC_000012.11:g.5153947dup , CM000674.1:g.5153947dup GRCh37
NC_000012.10:g.5024208dup NCBI36
NG_012198.1:g.5863dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.634dup MANE Select ENSP00000252321.3:p.Arg212ProfsTer6
ENST00000252321.4:c.634dup ENSP00000252321.3:p.Arg212ProfsTer6
NM_002234.3:c.634dup NP_002225.2:p.Arg212ProfsTer6
NM_002234.4:c.634dup MANE Select NP_002225.2:p.Arg212ProfsTer6
Search 100 bp 5'
Search 100 bp 3'