Canonical Allele Identifier: CA2695217662

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189095_20189096insA , CM000675.2:g.20189095_20189096insA	GRCh38
NC_000013.10:g.20763234_20763235insA , CM000675.1:g.20763234_20763235insA	GRCh37
NC_000013.9:g.19661234_19661235insA	NCBI36
NG_008358.1:g.8880_8881insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.486_487insT	ENSP00000372295.1:p.Met163TyrfsTer?
ENST00000382848.5:c.486_487insT MANE Select	ENSP00000372299.4:p.Met163TyrfsTer?
ENST00000382844.1:c.486_487insT	ENSP00000372295.1:p.Met163TyrfsTer?
ENST00000382848.4:c.486_487insT	ENSP00000372299.4:p.Met163TyrfsTer?
NM_004004.5:c.486_487insT	NP_003995.2:p.Met163TyrfsTer?
XM_011535049.1:c.486_487insT	XP_011533351.1:p.Met163TyrfsTer?
XM_011535049.2:c.486_487insT	XP_011533351.1:p.Met163TyrfsTer?
NM_004004.6:c.486_487insT MANE Select	NP_003995.2:p.Met163TyrfsTer?