Canonical Allele Identifier: CA2644768966

Gene: GJB3 SMIM12

Linked Data

• gnomAD v4: 1-34781649-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781651del , CM000663.2:g.34781651del	GRCh38
NC_000001.10:g.35247252del , CM000663.1:g.35247252del	GRCh37
NC_000001.9:g.35019839del	NCBI36
NG_008309.1:g.5463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-153del (GJB3) MANE Select	ENSP00000362464.2:n.-153del
ENST00000373366.2:c.-153del (GJB3)	ENSP00000362464.2:n.-153del
ENST00000426886.1:c.208-63241del (SMIM12)	ENSP00000429902.1:n.208-63241del
NM_024009.2:c.-153del (GJB3)	NP_076872.1:n.-153del
XR_947179.1:n.1001+16721del
XR_001737967.1:n.1023+16721del
NM_024009.3:c.-153del (GJB3) MANE Select	NP_076872.1:n.-153del