Canonical Allele Identifier: CA2622252291

Gene: GJB2

Linked Data

• gnomAD v4: 13-20189182-A-AGCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189182_20189183insGCCTC , CM000675.2:g.20189182_20189183insGCCTC	GRCh38
NC_000013.10:g.20763321_20763322insGCCTC , CM000675.1:g.20763321_20763322insGCCTC	GRCh37
NC_000013.9:g.19661321_19661322insGCCTC	NCBI36
NG_008358.1:g.8793_8794insGAGGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.399_400insGAGGC	ENSP00000372295.1:p.Trp134GlufsTer?
ENST00000382848.5:c.399_400insGAGGC MANE Select	ENSP00000372299.4:p.Trp134GlufsTer?
ENST00000382844.1:c.399_400insGAGGC	ENSP00000372295.1:p.Trp134GlufsTer?
ENST00000382848.4:c.399_400insGAGGC	ENSP00000372299.4:p.Trp134GlufsTer?
NM_004004.5:c.399_400insGAGGC	NP_003995.2:p.Trp134GlufsTer?
XM_011535049.1:c.399_400insGAGGC	XP_011533351.1:p.Trp134GlufsTer?
XM_011535049.2:c.399_400insGAGGC	XP_011533351.1:p.Trp134GlufsTer?
NM_004004.6:c.399_400insGAGGC MANE Select	NP_003995.2:p.Trp134GlufsTer?