Canonical Allele Identifier: CA2622252365

Gene: GJB2

Linked Data

• gnomAD v4: 13-20189692-AAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189693_20189695del , CM000675.2:g.20189693_20189695del	GRCh38
NC_000013.10:g.20763832_20763834del , CM000675.1:g.20763832_20763834del	GRCh37
NC_000013.9:g.19661832_19661834del	NCBI36
NG_008358.1:g.8281_8283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-114_-112del	ENSP00000372295.1:n.-114_-112del
ENST00000382848.5:c.-22-92_-22-90del MANE Select	ENSP00000372299.4:n.-22-92_-22-90del
ENST00000382844.1:c.-114_-112del	ENSP00000372295.1:n.-114_-112del
ENST00000382848.4:c.-22-92_-22-90del	ENSP00000372299.4:n.-22-92_-22-90del
NM_004004.5:c.-22-92_-22-90del	NP_003995.2:n.-22-92_-22-90del
XM_011535049.1:c.-22-92_-22-90del	XP_011533351.1:n.-22-92_-22-90del
XM_011535049.2:c.-22-92_-22-90del	XP_011533351.1:n.-22-92_-22-90del
NM_004004.6:c.-22-92_-22-90del MANE Select	NP_003995.2:n.-22-92_-22-90del