Canonical Allele Identifier: CA1199652735
Gene: GJA8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908283_147908304delinsGAGGCGGAGGAGCTGGGCCAGC , CM000663.2:g.147908283_147908304delinsGAGGCGGAGGAGCTGGGCCAGC GRCh38
NC_000001.10:g.147380410_147380431delinsGAGGCGGAGGAGCTGGGCCAGC , CM000663.1:g.147380410_147380431delinsGAGGCGGAGGAGCTGGGCCAGC GRCh37
NC_000001.9:g.145847034_145847055delinsGAGGCGGAGGAGCTGGGCCAGC NCBI36
NG_016242.1:g.10465_10486delinsGAGGCGGAGGAGCTGGGCCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.328_349delinsGAGGCGGAGGAGCTGGGCCAGC MANE Select ENSP00000358238.1:p.Glu110=
ENST00000369235.1:c.328_349delinsGAGGCGGAGGAGCTGGGCCAGC ENSP00000358238.1:p.Glu110=
NM_005267.4:c.328_349delinsGAGGCGGAGGAGCTGGGCCAGC NP_005258.2:p.Glu110=
XM_011509416.1:c.328_349delinsGAGGCGGAGGAGCTGGGCCAGC XP_011507718.1:p.Glu110=
XM_011509417.1:c.328_349delinsGAGGCGGAGGAGCTGGGCCAGC XP_011507719.1:p.Glu110=
XM_011509417.2:c.328_349delinsGAGGCGGAGGAGCTGGGCCAGC XP_011507719.1:p.Glu110=
XR_002956281.1:n.1243_1264delinsGAGGCGGAGGAGCTGGGCCAGC
NM_005267.5:c.328_349delinsGAGGCGGAGGAGCTGGGCCAGC MANE Select NP_005258.2:p.Glu110=
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