Canonical Allele Identifier: CA2695217669

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189185_20189194del , CM000675.2:g.20189185_20189194del	GRCh38
NC_000013.10:g.20763324_20763333del , CM000675.1:g.20763324_20763333del	GRCh37
NC_000013.9:g.19661324_19661333del	NCBI36
NG_008358.1:g.8784_8793del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.390_399del	ENSP00000372295.1:p.Ser131GlyfsTer?
ENST00000382848.5:c.390_399del MANE Select	ENSP00000372299.4:p.Ser131GlyfsTer?
ENST00000382844.1:c.390_399del	ENSP00000372295.1:p.Ser131GlyfsTer?
ENST00000382848.4:c.390_399del	ENSP00000372299.4:p.Ser131GlyfsTer?
NM_004004.5:c.390_399del	NP_003995.2:p.Ser131GlyfsTer?
XM_011535049.1:c.390_399del	XP_011533351.1:p.Ser131GlyfsTer?
XM_011535049.2:c.390_399del	XP_011533351.1:p.Ser131GlyfsTer?
NM_004004.6:c.390_399del MANE Select	NP_003995.2:p.Ser131GlyfsTer?