Canonical Allele Identifier: CA483154064
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 496214
ClinVar RCV Id: RCV000588025 RCV001002185
dbSNP Id: rs1555342014
gnomAD v4: 13-20189570-GC-G
MyVariant Identifiers: chr13:g.20763710del (hg19) chr13:g.20763710delC (hg19) chr13:g.20189571del (hg38)
PubMed: PMID:17666888
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189574del , CM000675.2:g.20189574del GRCh38
NC_000013.10:g.20763713del , CM000675.1:g.20763713del GRCh37
NC_000013.9:g.19661713del NCBI36
NG_008358.1:g.8405del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.11del ENSP00000372295.1:p.Gly4AlafsTer10
ENST00000382848.5:c.11del MANE Select ENSP00000372299.4:p.Gly4AlafsTer10
ENST00000382844.1:c.11del ENSP00000372295.1:p.Gly4AlafsTer10
ENST00000382848.4:c.11del ENSP00000372299.4:p.Gly4AlafsTer10
NM_004004.5:c.11del NP_003995.2:p.Gly4AlafsTer10
XM_011535049.1:c.11del XP_011533351.1:p.Gly4AlafsTer10
XM_011535049.2:c.11del XP_011533351.1:p.Gly4AlafsTer10
NM_004004.6:c.11del MANE Select NP_003995.2:p.Gly4AlafsTer10
Search 100 bp 5'
Search 100 bp 3'