Canonical Allele Identifier: CA735258096

Gene: GJB3 SMIM12

Linked Data

• dbSNP Id: rs1342283342
• MyVariant Identifiers: chr1:g.35247260_35247287del (hg19) ; chr1:g.34781659_34781686del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781660_34781687del , CM000663.2:g.34781660_34781687del	GRCh38
NC_000001.10:g.35247261_35247288del , CM000663.1:g.35247261_35247288del	GRCh37
NC_000001.9:g.35019848_35019875del	NCBI36
NG_008309.1:g.5472_5499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-144_-117del (GJB3) MANE Select	ENSP00000362464.2:n.-144_-117del
ENST00000373366.2:c.-144_-117del (GJB3)	ENSP00000362464.2:n.-144_-117del
ENST00000426886.1:c.208-63277_208-63250del (SMIM12)	ENSP00000429902.1:n.208-63277_208-63250del
NM_024009.2:c.-144_-117del (GJB3)	NP_076872.1:n.-144_-117del
XR_947179.1:n.1001+16685_1001+16712del
XR_001737967.1:n.1023+16685_1023+16712del
NM_024009.3:c.-144_-117del (GJB3) MANE Select	NP_076872.1:n.-144_-117del