Canonical Allele Identifier: CA2617209904
Gene: KCNA5 HGNC NCBI

Linked Data

gnomAD v4: 12-5044897-G-GGCCATC
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044905_5044910dup , CM000674.2:g.5044905_5044910dup GRCh38
NC_000012.11:g.5154071_5154076dup , CM000674.1:g.5154071_5154076dup GRCh37
NC_000012.10:g.5024332_5024337dup NCBI36
NG_012198.1:g.5987_5992dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.758_763dup MANE Select ENSP00000252321.3:p.Ile254_Val255insAlaIle
ENST00000252321.4:c.758_763dup ENSP00000252321.3:p.Ile254_Val255insAlaIle
NM_002234.3:c.758_763dup NP_002225.2:p.Ile254_Val255insAlaIle
NM_002234.4:c.758_763dup MANE Select NP_002225.2:p.Ile254_Val255insAlaIle
Search 100 bp 5'
Search 100 bp 3'