Canonical Allele Identifier: CA2077139077

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189095_20189137delinsTGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGC , CM000675.2:g.20189095_20189137delinsTGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGC	GRCh38
NC_000013.10:g.20763234_20763276delinsTGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGC , CM000675.1:g.20763234_20763276delinsTGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGC	GRCh37
NC_000013.9:g.19661234_19661276delinsTGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGC	NCBI36
NG_008358.1:g.8839_8881delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA	ENSP00000372295.1:p.Ala149=
ENST00000382848.5:c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA MANE Select	ENSP00000372299.4:p.Ala149=
ENST00000382844.1:c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA	ENSP00000372295.1:p.Ala149=
ENST00000382848.4:c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA	ENSP00000372299.4:p.Ala149=
NM_004004.5:c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA	NP_003995.2:p.Ala149=
XM_011535049.1:c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA	XP_011533351.1:p.Ala149=
XM_011535049.2:c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA	XP_011533351.1:p.Ala149=
NM_004004.6:c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA MANE Select	NP_003995.2:p.Ala149=