Canonical Allele Identifier: CA2428802889
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs1935133079

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192974_50192975insATGAAAAGTGTG , CM000685.2:g.50192974_50192975insATGAAAAGTGTG GRCh38
NC_000023.10:g.49957625_49957626insATGAAAAGTGTG , CM000685.1:g.49957625_49957626insATGAAAAGTGTG GRCh37
NC_000023.9:g.49844365_49844366insATGAAAAGTGTG NCBI36
NG_012552.1:g.13039_13040insCACACTTTTCAT
NG_012552.2:g.13039_13040insCACACTTTTCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1738_1739insCACACTTTTCAT MANE Select ENSP00000351327.2:p.Gln580ProfsTer5
ENST00000358526.6:c.1738_1739insCACACTTTTCAT ENSP00000351327.2:p.Gln580ProfsTer5
ENST00000376064.7:c.1711_1712insCACACTTTTCAT ENSP00000365232.3:p.Gln571ProfsTer5
ENST00000448865.5:c.589_590insCACACTTTTCAT ENSP00000402403.1:p.Gln197ProfsTer5
ENST00000481402.5:n.1850_1851insCACACTTTTCAT
NM_003886.2:c.1738_1739insCACACTTTTCAT NP_003877.2:p.Gln580ProfsTer5
NM_139289.1:c.1711_1712insCACACTTTTCAT NP_647450.1:p.Gln571ProfsTer5
NM_003886.3:c.1738_1739insCACACTTTTCAT MANE Select NP_003877.2:p.Gln580ProfsTer5
NM_139289.2:c.1711_1712insCACACTTTTCAT NP_647450.1:p.Gln571ProfsTer5