Canonical Allele Identifier: CA2743131521

Gene: GJB3 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781720_34781729del , CM000663.2:g.34781720_34781729del	GRCh38
NC_000001.10:g.35247321_35247330del , CM000663.1:g.35247321_35247330del	GRCh37
NC_000001.9:g.35019908_35019917del	NCBI36
NG_008309.1:g.5532_5541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-84_-75del (GJB3) MANE Select	ENSP00000362464.2:n.-84_-75del
ENST00000373366.2:c.-84_-75del (GJB3)	ENSP00000362464.2:n.-84_-75del
ENST00000426886.1:c.208-63320_208-63311del (SMIM12)	ENSP00000429902.1:n.208-63320_208-63311del
NM_024009.2:c.-84_-75del (GJB3)	NP_076872.1:n.-84_-75del
XR_947179.1:n.1001+16642_1001+16651del
XR_001737967.1:n.1023+16642_1023+16651del
NM_024009.3:c.-84_-75del (GJB3) MANE Select	NP_076872.1:n.-84_-75del