Canonical Allele Identifier: CA608984147
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1446999
ClinVar RCV Id: RCV001996684
dbSNP Id: rs1441862662
gnomAD v2: 13-20763692-AG-A
gnomAD v3: 13-20189553-AG-A
gnomAD v4: 13-20189553-AG-A
MyVariant Identifiers: chr13:g.20763693del (hg19) chr13:g.20189554del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189555del , CM000675.2:g.20189555del GRCh38
NC_000013.10:g.20763694del , CM000675.1:g.20763694del GRCh37
NC_000013.9:g.19661694del NCBI36
NG_008358.1:g.8422del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.28del ENSP00000372295.1:p.Leu10TrpfsTer4
ENST00000382848.5:c.28del MANE Select ENSP00000372299.4:p.Leu10TrpfsTer4
ENST00000382844.1:c.28del ENSP00000372295.1:p.Leu10TrpfsTer4
ENST00000382848.4:c.28del ENSP00000372299.4:p.Leu10TrpfsTer4
NM_004004.5:c.28del NP_003995.2:p.Leu10TrpfsTer4
XM_011535049.1:c.28del XP_011533351.1:p.Leu10TrpfsTer4
XM_011535049.2:c.28del XP_011533351.1:p.Leu10TrpfsTer4
NM_004004.6:c.28del MANE Select NP_003995.2:p.Leu10TrpfsTer4
Search 100 bp 5'
Search 100 bp 3'