Canonical Allele Identifier: CA2077140040

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189390_20189406delinsGCACACGTTCTTGCAGC , CM000675.2:g.20189390_20189406delinsGCACACGTTCTTGCAGC	GRCh38
NC_000013.10:g.20763529_20763545delinsGCACACGTTCTTGCAGC , CM000675.1:g.20763529_20763545delinsGCACACGTTCTTGCAGC	GRCh37
NC_000013.9:g.19661529_19661545delinsGCACACGTTCTTGCAGC	NCBI36
NG_008358.1:g.8570_8586delinsGCTGCAAGAACGTGTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.176_192delinsGCTGCAAGAACGTGTGC	ENSP00000372295.1:p.Gly59=
ENST00000382848.5:c.176_192delinsGCTGCAAGAACGTGTGC MANE Select	ENSP00000372299.4:p.Gly59=
ENST00000382844.1:c.176_192delinsGCTGCAAGAACGTGTGC	ENSP00000372295.1:p.Gly59=
ENST00000382848.4:c.176_192delinsGCTGCAAGAACGTGTGC	ENSP00000372299.4:p.Gly59=
NM_004004.5:c.176_192delinsGCTGCAAGAACGTGTGC	NP_003995.2:p.Gly59=
XM_011535049.1:c.176_192delinsGCTGCAAGAACGTGTGC	XP_011533351.1:p.Gly59=
XM_011535049.2:c.176_192delinsGCTGCAAGAACGTGTGC	XP_011533351.1:p.Gly59=
NM_004004.6:c.176_192delinsGCTGCAAGAACGTGTGC MANE Select	NP_003995.2:p.Gly59=