Canonical Allele Identifier: CA2622252166
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188953-AAT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188954_20188955del , CM000675.2:g.20188954_20188955del GRCh38
NC_000013.10:g.20763093_20763094del , CM000675.1:g.20763093_20763094del GRCh37
NC_000013.9:g.19661093_19661094del NCBI36
NG_008358.1:g.9021_9022del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.627_628del ENSP00000372295.1:p.Glu209AspfsTer7
ENST00000382848.5:c.627_628del MANE Select ENSP00000372299.4:p.Glu209AspfsTer7
ENST00000382844.1:c.627_628del ENSP00000372295.1:p.Glu209AspfsTer7
ENST00000382848.4:c.627_628del ENSP00000372299.4:p.Glu209AspfsTer7
NM_004004.5:c.627_628del NP_003995.2:p.Glu209AspfsTer7
XM_011535049.1:c.627_628del XP_011533351.1:p.Glu209AspfsTer7
XM_011535049.2:c.627_628del XP_011533351.1:p.Glu209AspfsTer7
NM_004004.6:c.627_628del MANE Select NP_003995.2:p.Glu209AspfsTer7
Search 100 bp 5'
Search 100 bp 3'