Canonical Allele Identifier: CA2695217678
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189257_20189258del , CM000675.2:g.20189257_20189258del GRCh38
NC_000013.10:g.20763396_20763397del , CM000675.1:g.20763396_20763397del GRCh37
NC_000013.9:g.19661396_19661397del NCBI36
NG_008358.1:g.8721_8722del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.327_328del ENSP00000372295.1:p.Glu110AspfsTer4
ENST00000382848.5:c.327_328del MANE Select ENSP00000372299.4:p.Glu110AspfsTer4
ENST00000382844.1:c.327_328del ENSP00000372295.1:p.Glu110AspfsTer4
ENST00000382848.4:c.327_328del ENSP00000372299.4:p.Glu110AspfsTer4
NM_004004.5:c.327_328del NP_003995.2:p.Glu110AspfsTer4
XM_011535049.1:c.327_328del XP_011533351.1:p.Glu110AspfsTer4
XM_011535049.2:c.327_328del XP_011533351.1:p.Glu110AspfsTer4
NM_004004.6:c.327_328del MANE Select NP_003995.2:p.Glu110AspfsTer4