Canonical Allele Identifier: CA1065916
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs782003242
ExAC: 1:147380410 GAGGCGGAGGAGCTGGGCCAGC / G
gnomAD v2: 1-147380410-GAGGCGGAGGAGCTGGGCCAGC-G
gnomAD v4: 1-147908283-GAGGCGGAGGAGCTGGGCCAGC-G
MyVariant Identifiers: chr1:g.147380411_147380431del (hg19) chr1:g.147908284_147908304del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908290_147908310del , CM000663.2:g.147908290_147908310del GRCh38
NC_000001.10:g.147380417_147380437del , CM000663.1:g.147380417_147380437del GRCh37
NC_000001.9:g.145847041_145847061del NCBI36
NG_016242.1:g.10472_10492del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.335_355del MANE Select ENSP00000358238.1:p.Glu112_Ala118del
ENST00000369235.1:c.335_355del ENSP00000358238.1:p.Glu112_Ala118del
NM_005267.4:c.335_355del NP_005258.2:p.Glu112_Ala118del
XM_011509416.1:c.335_355del XP_011507718.1:p.Glu112_Ala118del
XM_011509417.1:c.335_355del XP_011507719.1:p.Glu112_Ala118del
XM_011509417.2:c.335_355del XP_011507719.1:p.Glu112_Ala118del
XR_002956281.1:n.1250_1270del
NM_005267.5:c.335_355del MANE Select NP_005258.2:p.Glu112_Ala118del
Search 100 bp 5'
Search 100 bp 3'