Canonical Allele Identifier: CA2695217680
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189259_20189272del , CM000675.2:g.20189259_20189272del GRCh38
NC_000013.10:g.20763398_20763411del , CM000675.1:g.20763398_20763411del GRCh37
NC_000013.9:g.19661398_19661411del NCBI36
NG_008358.1:g.8704_8717del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.310_323del ENSP00000372295.1:p.Arg104GlyfsTer6
ENST00000382848.5:c.310_323del MANE Select ENSP00000372299.4:p.Arg104GlyfsTer6
ENST00000382844.1:c.310_323del ENSP00000372295.1:p.Arg104GlyfsTer6
ENST00000382848.4:c.310_323del ENSP00000372299.4:p.Arg104GlyfsTer6
NM_004004.5:c.310_323del NP_003995.2:p.Arg104GlyfsTer6
XM_011535049.1:c.310_323del XP_011533351.1:p.Arg104GlyfsTer6
XM_011535049.2:c.310_323del XP_011533351.1:p.Arg104GlyfsTer6
NM_004004.6:c.310_323del MANE Select NP_003995.2:p.Arg104GlyfsTer6