Canonical Allele Identifier: CA2695217654
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189011del , CM000675.2:g.20189011del GRCh38
NC_000013.10:g.20763150del , CM000675.1:g.20763150del GRCh37
NC_000013.9:g.19661150del NCBI36
NG_008358.1:g.8966del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.572del ENSP00000372295.1:p.Phe191SerfsTer5
ENST00000382848.5:c.572del MANE Select ENSP00000372299.4:p.Phe191SerfsTer5
ENST00000382844.1:c.572del ENSP00000372295.1:p.Phe191SerfsTer5
ENST00000382848.4:c.572del ENSP00000372299.4:p.Phe191SerfsTer5
NM_004004.5:c.572del NP_003995.2:p.Phe191SerfsTer5
XM_011535049.1:c.572del XP_011533351.1:p.Phe191SerfsTer5
XM_011535049.2:c.572del XP_011533351.1:p.Phe191SerfsTer5
NM_004004.6:c.572del MANE Select NP_003995.2:p.Phe191SerfsTer5
Search 100 bp 5'
Search 100 bp 3'