Canonical Allele Identifier: CA2077140504

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189519_20189531delinsTCCAATGCTGGTG , CM000675.2:g.20189519_20189531delinsTCCAATGCTGGTG	GRCh38
NC_000013.10:g.20763658_20763670delinsTCCAATGCTGGTG , CM000675.1:g.20763658_20763670delinsTCCAATGCTGGTG	GRCh37
NC_000013.9:g.19661658_19661670delinsTCCAATGCTGGTG	NCBI36
NG_008358.1:g.8445_8457delinsCACCAGCATTGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.51_63delinsCACCAGCATTGGA	ENSP00000372295.1:p.Ser17=
ENST00000382848.5:c.51_63delinsCACCAGCATTGGA MANE Select	ENSP00000372299.4:p.Ser17=
ENST00000382844.1:c.51_63delinsCACCAGCATTGGA	ENSP00000372295.1:p.Ser17=
ENST00000382848.4:c.51_63delinsCACCAGCATTGGA	ENSP00000372299.4:p.Ser17=
NM_004004.5:c.51_63delinsCACCAGCATTGGA	NP_003995.2:p.Ser17=
XM_011535049.1:c.51_63delinsCACCAGCATTGGA	XP_011533351.1:p.Ser17=
XM_011535049.2:c.51_63delinsCACCAGCATTGGA	XP_011533351.1:p.Ser17=
NM_004004.6:c.51_63delinsCACCAGCATTGGA MANE Select	NP_003995.2:p.Ser17=