Canonical Allele Identifier: CA2647662018
Gene: GJA8 HGNC NCBI

Linked Data

gnomAD v4: 1-147908014-T-TCATCG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908015_147908019dup , CM000663.2:g.147908015_147908019dup GRCh38
NC_000001.10:g.147380142_147380146dup , CM000663.1:g.147380142_147380146dup GRCh37
NC_000001.9:g.145846766_145846770dup NCBI36
NG_016242.1:g.10197_10201dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.60_64dup MANE Select ENSP00000358238.1:p.Gly22AlafsTer?
ENST00000369235.1:c.60_64dup ENSP00000358238.1:p.Gly22AlafsTer?
NM_005267.4:c.60_64dup NP_005258.2:p.Gly22AlafsTer?
XM_011509416.1:c.60_64dup XP_011507718.1:p.Gly22AlafsTer?
XM_011509417.1:c.60_64dup XP_011507719.1:p.Gly22AlafsTer?
XM_011509417.2:c.60_64dup XP_011507719.1:p.Gly22AlafsTer?
XR_002956281.1:n.975_979dup
NM_005267.5:c.60_64dup MANE Select NP_005258.2:p.Gly22AlafsTer?
Search 100 bp 5'
Search 100 bp 3'