Canonical Allele Identifier: CA2695217655
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189022_20189024del , CM000675.2:g.20189022_20189024del GRCh38
NC_000013.10:g.20763161_20763163del , CM000675.1:g.20763161_20763163del GRCh37
NC_000013.9:g.19661161_19661163del NCBI36
NG_008358.1:g.8953_8955del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.559_561del ENSP00000372295.1:p.Glu187del
ENST00000382848.5:c.559_561del MANE Select ENSP00000372299.4:p.Glu187del
ENST00000382844.1:c.559_561del ENSP00000372295.1:p.Glu187del
ENST00000382848.4:c.559_561del ENSP00000372299.4:p.Glu187del
NM_004004.5:c.559_561del NP_003995.2:p.Glu187del
XM_011535049.1:c.559_561del XP_011533351.1:p.Glu187del
XM_011535049.2:c.559_561del XP_011533351.1:p.Glu187del
NM_004004.6:c.559_561del MANE Select NP_003995.2:p.Glu187del
Search 100 bp 5'
Search 100 bp 3'