Canonical Allele Identifier: CA2695217667

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189147_20189148del , CM000675.2:g.20189147_20189148del	GRCh38
NC_000013.10:g.20763286_20763287del , CM000675.1:g.20763286_20763287del	GRCh37
NC_000013.9:g.19661286_19661287del	NCBI36
NG_008358.1:g.8829_8830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.435_436del	ENSP00000372295.1:p.Phe146ArgfsTer?
ENST00000382848.5:c.435_436del MANE Select	ENSP00000372299.4:p.Phe146ArgfsTer?
ENST00000382844.1:c.435_436del	ENSP00000372295.1:p.Phe146ArgfsTer?
ENST00000382848.4:c.435_436del	ENSP00000372299.4:p.Phe146ArgfsTer?
NM_004004.5:c.435_436del	NP_003995.2:p.Phe146ArgfsTer?
XM_011535049.1:c.435_436del	XP_011533351.1:p.Phe146ArgfsTer?
XM_011535049.2:c.435_436del	XP_011533351.1:p.Phe146ArgfsTer?
NM_004004.6:c.435_436del MANE Select	NP_003995.2:p.Phe146ArgfsTer?