Canonical Allele Identifier: CA6904319
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs751509573
ExAC: 13:20763616 GATCATA / G
gnomAD v2: 13-20763616-GATCATA-G
gnomAD v4: 13-20189477-GATCATA-G
MyVariant Identifiers: chr13:g.20763617_20763622del (hg19) chr13:g.20189478_20189483del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189480_20189485del , CM000675.2:g.20189480_20189485del GRCh38
NC_000013.10:g.20763619_20763624del , CM000675.1:g.20763619_20763624del GRCh37
NC_000013.9:g.19661619_19661624del NCBI36
NG_008358.1:g.8493_8498del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.99_104del ENSP00000372295.1:p.Met34_Ile35del
ENST00000382848.5:c.99_104del MANE Select ENSP00000372299.4:p.Met34_Ile35del
ENST00000382844.1:c.99_104del ENSP00000372295.1:p.Met34_Ile35del
ENST00000382848.4:c.99_104del ENSP00000372299.4:p.Met34_Ile35del
NM_004004.5:c.99_104del NP_003995.2:p.Met34_Ile35del
XM_011535049.1:c.99_104del XP_011533351.1:p.Met34_Ile35del
XM_011535049.2:c.99_104del XP_011533351.1:p.Met34_Ile35del
NM_004004.6:c.99_104del MANE Select NP_003995.2:p.Met34_Ile35del
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