Canonical Allele Identifier: CA1162031883

Gene: GJB3 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781658_34781686delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG , CM000663.2:g.34781658_34781686delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG	GRCh38
NC_000001.10:g.35247259_35247287delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG , CM000663.1:g.35247259_35247287delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG	GRCh37
NC_000001.9:g.35019846_35019874delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG	NCBI36
NG_008309.1:g.5470_5498delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-146_-118delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG (GJB3) MANE Select	ENSP00000362464.2:n.-146_-118delinsCCGCCCGGGGTGTGCCCGCCGTCTGT...
ENST00000373366.2:c.-146_-118delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG (GJB3)	ENSP00000362464.2:n.-146_-118delinsCCGCCCGGGGTGTGCCCGCCGTCTGT...
ENST00000426886.1:c.208-63277_208-63249delinsCACACAGACGGCGGGCACACCCCGGGCGG (SMIM12)	ENSP00000429902.1:n.208-63277_208-63249delinsCACACAGACGGCGGGC...
NM_024009.2:c.-146_-118delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG (GJB3)	NP_076872.1:n.-146_-118delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG
XR_947179.1:n.1001+16685_1001+16713delinsCACACAGACGGCGGGCACACCCCGGGCGG
XR_001737967.1:n.1023+16685_1023+16713delinsCACACAGACGGCGGGCACACCCCGGGCGG
NM_024009.3:c.-146_-118delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG (GJB3) MANE Select	NP_076872.1:n.-146_-118delinsCCGCCCGGGGTGTGCCCGCCGTCTGTGTG