Canonical Allele Identifier: CA1065906
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs782372941
ExAC: 1:147380387 TGGA / T
gnomAD v2: 1-147380387-TGGA-T
gnomAD v4: 1-147908260-TGGA-T
MyVariant Identifiers: chr1:g.147380388_147380390del (hg19) chr1:g.147908261_147908263del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908265_147908267del , CM000663.2:g.147908265_147908267del GRCh38
NC_000001.10:g.147380392_147380394del , CM000663.1:g.147380392_147380394del GRCh37
NC_000001.9:g.145847016_145847018del NCBI36
NG_016242.1:g.10447_10449del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.310_312del MANE Select ENSP00000358238.1:p.Glu104del
ENST00000369235.1:c.310_312del ENSP00000358238.1:p.Glu104del
NM_005267.4:c.310_312del NP_005258.2:p.Glu104del
XM_011509416.1:c.310_312del XP_011507718.1:p.Glu104del
XM_011509417.1:c.310_312del XP_011507719.1:p.Glu104del
XM_011509417.2:c.310_312del XP_011507719.1:p.Glu104del
XR_002956281.1:n.1225_1227del
NM_005267.5:c.310_312del MANE Select NP_005258.2:p.Glu104del
Search 100 bp 5'
Search 100 bp 3'