Canonical Allele Identifier: CA2695217723

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189453del , CM000675.2:g.20189453del	GRCh38
NC_000013.10:g.20763592del , CM000675.1:g.20763592del	GRCh37
NC_000013.9:g.19661592del	NCBI36
NG_008358.1:g.8523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.129del	ENSP00000372295.1:p.Trp44GlyfsTer?
ENST00000382848.5:c.129del MANE Select	ENSP00000372299.4:p.Trp44GlyfsTer?
ENST00000382844.1:c.129del	ENSP00000372295.1:p.Trp44GlyfsTer?
ENST00000382848.4:c.129del	ENSP00000372299.4:p.Trp44GlyfsTer?
NM_004004.5:c.129del	NP_003995.2:p.Trp44GlyfsTer?
XM_011535049.1:c.129del	XP_011533351.1:p.Trp44GlyfsTer?
XM_011535049.2:c.129del	XP_011533351.1:p.Trp44GlyfsTer?
NM_004004.6:c.129del MANE Select	NP_003995.2:p.Trp44GlyfsTer?