Canonical Allele Identifier: CA696362590

Gene: GJB6

Linked Data

• dbSNP Id: rs1449177395
• MyVariant Identifiers: chr13:g.20803887_20803888insC (hg19) ; chr13:g.20229748_20229749insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20229750dup , CM000675.2:g.20229750dup	GRCh38
NC_000013.10:g.20803889dup , CM000675.1:g.20803889dup	GRCh37
NC_000013.9:g.19701889dup	NCBI36
NG_008323.1:g.7647dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241124.11:c.-185dup
ENST00000400066.8:c.-185dup
ENST00000642251.1:c.-185dup
ENST00000643121.1:c.-185dup
ENST00000643211.1:c.-185dup
ENST00000644236.1:c.-185dup
ENST00000644283.1:c.-185dup
ENST00000644667.1:c.-185dup
ENST00000645654.1:c.-185dup	ENSP00000494720.1:n.-185dup
ENST00000646108.1:c.-185dup	ENSP00000493512.1:n.-185dup
ENST00000647029.1:c.-185dup
ENST00000647243.1:c.-185dup
ENST00000241124.10:c.-185dup
ENST00000356192.6:c.-185dup
ENST00000400065.7:c.-185dup
ENST00000400066.7:c.-185dup
NM_001110219.2:c.-185dup
NM_001110220.2:c.-185dup
NM_001110221.2:c.-185dup
NM_006783.4:c.-185dup
NM_001110219.3:c.-185dup
NM_001370090.1:c.-185dup
NM_001370091.1:c.-185dup
NM_001370092.1:c.-185dup
NM_001110220.3:c.-185dup
NM_001110221.3:c.-185dup
NM_006783.5:c.-185dup