Canonical Allele Identifier: CA2508490180
Gene: AKAP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192308_50192309insGACAAA , CM000685.2:g.50192308_50192309insGACAAA GRCh38
NC_000023.10:g.49956959_49956960insGACAAA , CM000685.1:g.49956959_49956960insGACAAA GRCh37
NC_000023.9:g.49843699_49843700insGACAAA NCBI36
NG_012552.1:g.13705_13706insTTTGTC
NG_012552.2:g.13705_13706insTTTGTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2404_2405insTTTGTC MANE Select ENSP00000351327.2:p.Glu802delinsValCysGln
ENST00000358526.6:c.2404_2405insTTTGTC ENSP00000351327.2:p.Glu802delinsValCysGln
ENST00000376064.7:c.2377_2378insTTTGTC ENSP00000365232.3:p.Glu793delinsValCysGln
ENST00000481402.5:n.2516_2517insTTTGTC
NM_003886.2:c.2404_2405insTTTGTC NP_003877.2:p.Glu802delinsValCysGln
NM_139289.1:c.2377_2378insTTTGTC NP_647450.1:p.Glu793delinsValCysGln
NM_003886.3:c.2404_2405insTTTGTC MANE Select NP_003877.2:p.Glu802delinsValCysGln
NM_139289.2:c.2377_2378insTTTGTC NP_647450.1:p.Glu793delinsValCysGln