Canonical Allele Identifier: CA2644768925

Gene: GJB3 SMIM12

Linked Data

• dbSNP Id: rs2148352737
• gnomAD v4: 1-34781609-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781611del , CM000663.2:g.34781611del	GRCh38
NC_000001.10:g.35247212del , CM000663.1:g.35247212del	GRCh37
NC_000001.9:g.35019799del	NCBI36
NG_008309.1:g.5423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-193del (GJB3) MANE Select	ENSP00000362464.2:n.-193del
ENST00000373366.2:c.-193del (GJB3)	ENSP00000362464.2:n.-193del
ENST00000426886.1:c.208-63201del (SMIM12)	ENSP00000429902.1:n.208-63201del
NM_024009.2:c.-193del (GJB3)	NP_076872.1:n.-193del
XR_947179.1:n.1001+16761del
XR_001737967.1:n.1023+16761del
NM_024009.3:c.-193del (GJB3) MANE Select	NP_076872.1:n.-193del