Canonical Allele Identifier: CA2077140484

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189513_20189551delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC , CM000675.2:g.20189513_20189551delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC	GRCh38
NC_000013.10:g.20763652_20763690delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC , CM000675.1:g.20763652_20763690delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC	GRCh37
NC_000013.9:g.19661652_19661690delinsGATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC	NCBI36
NG_008358.1:g.8425_8463delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC	ENSP00000372295.1:p.Gly11=
ENST00000382848.5:c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC MANE Select	ENSP00000372299.4:p.Gly11=
ENST00000382844.1:c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC	ENSP00000372295.1:p.Gly11=
ENST00000382848.4:c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC	ENSP00000372299.4:p.Gly11=
NM_004004.5:c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC	NP_003995.2:p.Gly11=
XM_011535049.1:c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC	XP_011533351.1:p.Gly11=
XM_011535049.2:c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC	XP_011533351.1:p.Gly11=
NM_004004.6:c.31_69delinsGGGGGTGTGAACAAACACTCCACCAGCATTGGAAAGATC MANE Select	NP_003995.2:p.Gly11=