Canonical Allele Identifier: CA696363988
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1073145
ClinVar RCV Id: RCV001386052
dbSNP Id: rs1165937383
gnomAD v3: 13-20189540-G-GT
gnomAD v4: 13-20189540-G-GT
MyVariant Identifiers: chr13:g.20763679_20763680insT (hg19) chr13:g.20189540_20189541insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189542dup , CM000675.2:g.20189542dup GRCh38
NC_000013.10:g.20763681dup , CM000675.1:g.20763681dup GRCh37
NC_000013.9:g.19661681dup NCBI36
NG_008358.1:g.8435dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.41dup ENSP00000372295.1:p.Asn14LysfsTer?
ENST00000382848.5:c.41dup MANE Select ENSP00000372299.4:p.Asn14LysfsTer?
ENST00000382844.1:c.41dup ENSP00000372295.1:p.Asn14LysfsTer?
ENST00000382848.4:c.41dup ENSP00000372299.4:p.Asn14LysfsTer?
NM_004004.5:c.41dup NP_003995.2:p.Asn14LysfsTer?
XM_011535049.1:c.41dup XP_011533351.1:p.Asn14LysfsTer?
XM_011535049.2:c.41dup XP_011533351.1:p.Asn14LysfsTer?
NM_004004.6:c.41dup MANE Select NP_003995.2:p.Asn14LysfsTer?
Search 100 bp 5'
Search 100 bp 3'