Canonical Allele Identifier: CA420607113
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs782150699
gnomAD v2: 1-147380469-C-CAAG
gnomAD v3: 1-147908342-C-CAAG
gnomAD v4: 1-147908342-C-CAAG
COSMIC: COSM5968794
MyVariant Identifiers: chr1:g.147380472_147380473insAAG (hg19) chr1:g.147380469_147380470insAAG (hg19) chr1:g.147908345_147908346insAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908347_147908349dup , CM000663.2:g.147908347_147908349dup GRCh38
NC_000001.10:g.147380474_147380476dup , CM000663.1:g.147380474_147380476dup GRCh37
NC_000001.9:g.145847098_145847100dup NCBI36
NG_016242.1:g.10529_10531dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.392_394dup MANE Select ENSP00000358238.1:p.Lys131_Ser132insLys
ENST00000369235.1:c.392_394dup ENSP00000358238.1:p.Lys131_Ser132insLys
NM_005267.4:c.392_394dup NP_005258.2:p.Lys131_Ser132insLys
XM_011509416.1:c.392_394dup XP_011507718.1:p.Lys131_Ser132insLys
XM_011509417.1:c.392_394dup XP_011507719.1:p.Lys131_Ser132insLys
XM_011509417.2:c.392_394dup XP_011507719.1:p.Lys131_Ser132insLys
XR_002956281.1:n.1307_1309dup
NM_005267.5:c.392_394dup MANE Select NP_005258.2:p.Lys131_Ser132insLys
Search 100 bp 5'
Search 100 bp 3'