Canonical Allele Identifier: CA2509187188
Gene: GJA8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908360_147908361insGGC , CM000663.2:g.147908360_147908361insGGC GRCh38
NC_000001.10:g.147380487_147380488insGGC , CM000663.1:g.147380487_147380488insGGC GRCh37
NC_000001.9:g.145847111_145847112insGGC NCBI36
NG_016242.1:g.10542_10543insGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.405_406insGGC MANE Select ENSP00000358238.1:p.Ser135_Lys136insGly
ENST00000369235.1:c.405_406insGGC ENSP00000358238.1:p.Ser135_Lys136insGly
NM_005267.4:c.405_406insGGC NP_005258.2:p.Ser135_Lys136insGly
XM_011509416.1:c.405_406insGGC XP_011507718.1:p.Ser135_Lys136insGly
XM_011509417.1:c.405_406insGGC XP_011507719.1:p.Ser135_Lys136insGly
XM_011509417.2:c.405_406insGGC XP_011507719.1:p.Ser135_Lys136insGly
XR_002956281.1:n.1320_1321insGGC
NM_005267.5:c.405_406insGGC MANE Select NP_005258.2:p.Ser135_Lys136insGly