Canonical Allele Identifier: CA696361360

Gene: GJB2

Linked Data

• dbSNP Id: rs1300404483
• gnomAD v3: 13-20187738-CAT-C
• gnomAD v4: 13-20187738-CAT-C
• MyVariant Identifiers: chr13:g.20761878_20761879del (hg19) ; chr13:g.20187739_20187740del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20187739_20187740del , CM000675.2:g.20187739_20187740del	GRCh38
NC_000013.10:g.20761878_20761879del , CM000675.1:g.20761878_20761879del	GRCh37
NC_000013.9:g.19659878_19659879del	NCBI36
NG_008358.1:g.10236_10237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.*1161_*1162del	ENSP00000372295.1:n.*1161_*1162del
ENST00000382848.5:c.*1161_*1162del MANE Select	ENSP00000372299.4:n.*1161_*1162del
ENST00000382844.1:c.*1161_*1162del	ENSP00000372295.1:n.*1161_*1162del
ENST00000382848.4:c.*1161_*1162del	ENSP00000372299.4:n.*1161_*1162del
NM_004004.5:c.*1161_*1162del	NP_003995.2:n.*1161_*1162del
XM_011535049.1:c.*1161_*1162del	XP_011533351.1:n.*1161_*1162del
XM_011535049.2:c.*1161_*1162del	XP_011533351.1:n.*1161_*1162del
NM_004004.6:c.*1161_*1162del MANE Select	NP_003995.2:n.*1161_*1162del