Canonical Allele Identifier: CA2695217682
Gene: GJB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189269del , CM000675.2:g.20189269del GRCh38
NC_000013.10:g.20763408del , CM000675.1:g.20763408del GRCh37
NC_000013.9:g.19661408del NCBI36
NG_008358.1:g.8708del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.314del ENSP00000372295.1:p.Lys105SerfsTer7
ENST00000382848.5:c.314del MANE Select ENSP00000372299.4:p.Lys105SerfsTer7
ENST00000382844.1:c.314del ENSP00000372295.1:p.Lys105SerfsTer7
ENST00000382848.4:c.314del ENSP00000372299.4:p.Lys105SerfsTer7
NM_004004.5:c.314del NP_003995.2:p.Lys105SerfsTer7
XM_011535049.1:c.314del XP_011533351.1:p.Lys105SerfsTer7
XM_011535049.2:c.314del XP_011533351.1:p.Lys105SerfsTer7
NM_004004.6:c.314del MANE Select NP_003995.2:p.Lys105SerfsTer7