Canonical Allele Identifier: CA2428802887
Gene: AKAP4 HGNC NCBI

Linked Data

dbSNP Id: rs1935133025

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50192973_50192974insAA , CM000685.2:g.50192973_50192974insAA GRCh38
NC_000023.10:g.49957624_49957625insAA , CM000685.1:g.49957624_49957625insAA GRCh37
NC_000023.9:g.49844364_49844365insAA NCBI36
NG_012552.1:g.13040_13041insTT
NG_012552.2:g.13040_13041insTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000358526.7:c.1739_1740insTT MANE Select ENSP00000351327.2:p.Gln580HisfsTer2
ENST00000358526.6:c.1739_1740insTT ENSP00000351327.2:p.Gln580HisfsTer2
ENST00000376064.7:c.1712_1713insTT ENSP00000365232.3:p.Gln571HisfsTer2
ENST00000448865.5:c.590_591insTT ENSP00000402403.1:p.Gln197HisfsTer2
ENST00000481402.5:n.1851_1852insTT
NM_003886.2:c.1739_1740insTT NP_003877.2:p.Gln580HisfsTer2
NM_139289.1:c.1712_1713insTT NP_647450.1:p.Gln571HisfsTer2
NM_003886.3:c.1739_1740insTT MANE Select NP_003877.2:p.Gln580HisfsTer2
NM_139289.2:c.1712_1713insTT NP_647450.1:p.Gln571HisfsTer2