Canonical Allele Identifier: CA2695217671

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189204_20189205insTCCGCAT , CM000675.2:g.20189204_20189205insTCCGCAT	GRCh38
NC_000013.10:g.20763343_20763344insTCCGCAT , CM000675.1:g.20763343_20763344insTCCGCAT	GRCh37
NC_000013.9:g.19661343_19661344insTCCGCAT	NCBI36
NG_008358.1:g.8771_8772insATGCGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.377_378insATGCGGA	ENSP00000372295.1:p.Arg127CysfsTer?
ENST00000382848.5:c.377_378insATGCGGA MANE Select	ENSP00000372299.4:p.Arg127CysfsTer?
ENST00000382844.1:c.377_378insATGCGGA	ENSP00000372295.1:p.Arg127CysfsTer?
ENST00000382848.4:c.377_378insATGCGGA	ENSP00000372299.4:p.Arg127CysfsTer?
NM_004004.5:c.377_378insATGCGGA	NP_003995.2:p.Arg127CysfsTer?
XM_011535049.1:c.377_378insATGCGGA	XP_011533351.1:p.Arg127CysfsTer?
XM_011535049.2:c.377_378insATGCGGA	XP_011533351.1:p.Arg127CysfsTer?
NM_004004.6:c.377_378insATGCGGA MANE Select	NP_003995.2:p.Arg127CysfsTer?