Canonical Allele Identifier: CA1162033187

Gene: GJB3 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784816_34784824delinsAGCGTTCGG , CM000663.2:g.34784816_34784824delinsAGCGTTCGG	GRCh38
NC_000001.10:g.35250417_35250425delinsAGCGTTCGG , CM000663.1:g.35250417_35250425delinsAGCGTTCGG	GRCh37
NC_000001.9:g.35023004_35023012delinsAGCGTTCGG	NCBI36
NG_008309.1:g.8628_8636delinsAGCGTTCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.54_62delinsAGCGTTCGG (GJB3) MANE Select	ENSP00000362464.2:p.Thr18=
ENST00000373362.3:c.54_62delinsAGCGTTCGG (GJB3)	ENSP00000362460.3:p.Thr18=
ENST00000373366.2:c.54_62delinsAGCGTTCGG (GJB3)	ENSP00000362464.2:p.Thr18=
ENST00000426886.1:c.208-66415_208-66407delinsCCGAACGCT (SMIM12)	ENSP00000429902.1:n.208-66415_208-66407delinsCCGAACGCT
NM_001005752.1:c.54_62delinsAGCGTTCGG (GJB3)	NP_001005752.1:p.Thr18=
NM_024009.2:c.54_62delinsAGCGTTCGG (GJB3)	NP_076872.1:p.Thr18=
XR_947179.1:n.1001+13547_1001+13555delinsCCGAACGCT
XR_001737967.1:n.1023+13547_1023+13555delinsCCGAACGCT
NM_024009.3:c.54_62delinsAGCGTTCGG (GJB3) MANE Select	NP_076872.1:p.Thr18=
NM_001005752.2:c.54_62delinsAGCGTTCGG (GJB3)	NP_001005752.1:p.Thr18=