Canonical Allele Identifier: CA2820861760
Gene: AKAP4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192342_50192343del , CM000685.2:g.50192342_50192343del GRCh38
NC_000023.10:g.49956993_49956994del , CM000685.1:g.49956993_49956994del GRCh37
NC_000023.9:g.49843733_49843734del NCBI36
NG_012552.1:g.13671_13672del
NG_012552.2:g.13671_13672del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2370_2371del MANE Select ENSP00000351327.2:p.Met790IlefsTer7
ENST00000358526.6:c.2370_2371del ENSP00000351327.2:p.Met790IlefsTer7
ENST00000376064.7:c.2343_2344del ENSP00000365232.3:p.Met781IlefsTer7
ENST00000481402.5:n.2482_2483del
NM_003886.2:c.2370_2371del NP_003877.2:p.Met790IlefsTer7
NM_139289.1:c.2343_2344del NP_647450.1:p.Met781IlefsTer7
NM_003886.3:c.2370_2371del MANE Select NP_003877.2:p.Met790IlefsTer7
NM_139289.2:c.2343_2344del NP_647450.1:p.Met781IlefsTer7
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