Canonical Allele Identifier: CA2820861753
Gene: AKAP4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192313_50192314del , CM000685.2:g.50192313_50192314del GRCh38
NC_000023.10:g.49956964_49956965del , CM000685.1:g.49956964_49956965del GRCh37
NC_000023.9:g.49843704_49843705del NCBI36
NG_012552.1:g.13700_13701del
NG_012552.2:g.13700_13701del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2399_2400del MANE Select ENSP00000351327.2:p.Gln800ProfsTer10
ENST00000358526.6:c.2399_2400del ENSP00000351327.2:p.Gln800ProfsTer10
ENST00000376064.7:c.2372_2373del ENSP00000365232.3:p.Gln791ProfsTer10
ENST00000481402.5:n.2511_2512del
NM_003886.2:c.2399_2400del NP_003877.2:p.Gln800ProfsTer10
NM_139289.1:c.2372_2373del NP_647450.1:p.Gln791ProfsTer10
NM_003886.3:c.2399_2400del MANE Select NP_003877.2:p.Gln800ProfsTer10
NM_139289.2:c.2372_2373del NP_647450.1:p.Gln791ProfsTer10
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