Canonical Allele Identifier: CA2820861754
Gene: AKAP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192316_50192317del , CM000685.2:g.50192316_50192317del GRCh38
NC_000023.10:g.49956967_49956968del , CM000685.1:g.49956967_49956968del GRCh37
NC_000023.9:g.49843707_49843708del NCBI36
NG_012552.1:g.13697_13698del
NG_012552.2:g.13697_13698del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.2396_2397del MANE Select ENSP00000351327.2:p.Gly799AlafsTer11
ENST00000358526.6:c.2396_2397del ENSP00000351327.2:p.Gly799AlafsTer11
ENST00000376064.7:c.2369_2370del ENSP00000365232.3:p.Gly790AlafsTer11
ENST00000481402.5:n.2508_2509del
NM_003886.2:c.2396_2397del NP_003877.2:p.Gly799AlafsTer11
NM_139289.1:c.2369_2370del NP_647450.1:p.Gly790AlafsTer11
NM_003886.3:c.2396_2397del MANE Select NP_003877.2:p.Gly799AlafsTer11
NM_139289.2:c.2369_2370del NP_647450.1:p.Gly790AlafsTer11