Canonical Allele Identifier: CA2553670661
Gene: AKAP4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192308del , CM000685.2:g.50192308del GRCh38
NC_000023.10:g.49956959del , CM000685.1:g.49956959del GRCh37
NC_000023.9:g.49843699del NCBI36
NG_012552.1:g.13709del
NG_012552.2:g.13709del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2408del MANE Select ENSP00000351327.2:p.Lys803SerfsTer16
ENST00000358526.6:c.2408del ENSP00000351327.2:p.Lys803SerfsTer16
ENST00000376064.7:c.2381del ENSP00000365232.3:p.Lys794SerfsTer16
ENST00000481402.5:n.2520del
NM_003886.2:c.2408del NP_003877.2:p.Lys803SerfsTer16
NM_139289.1:c.2381del NP_647450.1:p.Lys794SerfsTer16
NM_003886.3:c.2408del MANE Select NP_003877.2:p.Lys803SerfsTer16
NM_139289.2:c.2381del NP_647450.1:p.Lys794SerfsTer16
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