Canonical Allele Identifier: CA2622252293

Gene: GJB2

Linked Data

• gnomAD v4: 13-20189190-G-GGATTATAGGTATA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189190_20189191insGATTATAGGTATA , CM000675.2:g.20189190_20189191insGATTATAGGTATA	GRCh38
NC_000013.10:g.20763329_20763330insGATTATAGGTATA , CM000675.1:g.20763329_20763330insGATTATAGGTATA	GRCh37
NC_000013.9:g.19661329_19661330insGATTATAGGTATA	NCBI36
NG_008358.1:g.8785_8786insTATACCTATAATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.391_392insTATACCTATAATC	ENSP00000372295.1:p.Ser131LeufsTer4
ENST00000382848.5:c.391_392insTATACCTATAATC MANE Select	ENSP00000372299.4:p.Ser131LeufsTer4
ENST00000382844.1:c.391_392insTATACCTATAATC	ENSP00000372295.1:p.Ser131LeufsTer4
ENST00000382848.4:c.391_392insTATACCTATAATC	ENSP00000372299.4:p.Ser131LeufsTer4
NM_004004.5:c.391_392insTATACCTATAATC	NP_003995.2:p.Ser131LeufsTer4
XM_011535049.1:c.391_392insTATACCTATAATC	XP_011533351.1:p.Ser131LeufsTer4
XM_011535049.2:c.391_392insTATACCTATAATC	XP_011533351.1:p.Ser131LeufsTer4
NM_004004.6:c.391_392insTATACCTATAATC MANE Select	NP_003995.2:p.Ser131LeufsTer4