Canonical Allele Identifier: CA2077138739

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188981_20188990delinsTTCCAGACAC , CM000675.2:g.20188981_20188990delinsTTCCAGACAC	GRCh38
NC_000013.10:g.20763120_20763129delinsTTCCAGACAC , CM000675.1:g.20763120_20763129delinsTTCCAGACAC	GRCh37
NC_000013.9:g.19661120_19661129delinsTTCCAGACAC	NCBI36
NG_008358.1:g.8986_8995delinsGTGTCTGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.592_601delinsGTGTCTGGAA	ENSP00000372295.1:p.Val198=
ENST00000382848.5:c.592_601delinsGTGTCTGGAA MANE Select	ENSP00000372299.4:p.Val198=
ENST00000382844.1:c.592_601delinsGTGTCTGGAA	ENSP00000372295.1:p.Val198=
ENST00000382848.4:c.592_601delinsGTGTCTGGAA	ENSP00000372299.4:p.Val198=
NM_004004.5:c.592_601delinsGTGTCTGGAA	NP_003995.2:p.Val198=
XM_011535049.1:c.592_601delinsGTGTCTGGAA	XP_011533351.1:p.Val198=
XM_011535049.2:c.592_601delinsGTGTCTGGAA	XP_011533351.1:p.Val198=
NM_004004.6:c.592_601delinsGTGTCTGGAA MANE Select	NP_003995.2:p.Val198=