Canonical Allele Identifier: CA2013430842
Gene: KCNA5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5044729_5044731delinsCGT , CM000674.2:g.5044729_5044731delinsCGT GRCh38
NC_000012.11:g.5153895_5153897delinsCGT , CM000674.1:g.5153895_5153897delinsCGT GRCh37
NC_000012.10:g.5024156_5024158delinsCGT NCBI36
NG_012198.1:g.5811_5813delinsCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.582_584delinsCGT MANE Select ENSP00000252321.3:p.Asp194=
ENST00000252321.4:c.582_584delinsCGT ENSP00000252321.3:p.Asp194=
NM_002234.3:c.582_584delinsCGT NP_002225.2:p.Asp194=
NM_002234.4:c.582_584delinsCGT MANE Select NP_002225.2:p.Asp194=
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