Canonical Allele Identifier: CA1162031818

Gene: GJB3 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781534_34781537delinsGCCC , CM000663.2:g.34781534_34781537delinsGCCC	GRCh38
NC_000001.10:g.35247135_35247138delinsGCCC , CM000663.1:g.35247135_35247138delinsGCCC	GRCh37
NC_000001.9:g.35019722_35019725delinsGCCC	NCBI36
NG_008309.1:g.5346_5349delinsGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-270_-267delinsGCCC (GJB3) MANE Select	ENSP00000362464.2:n.-270_-267delinsGCCC
ENST00000373366.2:c.-270_-267delinsGCCC (GJB3)	ENSP00000362464.2:n.-270_-267delinsGCCC
ENST00000426886.1:c.208-63128_208-63125delinsGGGC (SMIM12)	ENSP00000429902.1:n.208-63128_208-63125delinsGGGC
NM_024009.2:c.-270_-267delinsGCCC (GJB3)	NP_076872.1:n.-270_-267delinsGCCC
XR_947179.1:n.1001+16834_1001+16837delinsGGGC
XR_001737967.1:n.1023+16834_1023+16837delinsGGGC
NM_024009.3:c.-270_-267delinsGCCC (GJB3) MANE Select	NP_076872.1:n.-270_-267delinsGCCC