Canonical Allele Identifier: CA2695217663

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189118_20189119del , CM000675.2:g.20189118_20189119del	GRCh38
NC_000013.10:g.20763257_20763258del , CM000675.1:g.20763257_20763258del	GRCh37
NC_000013.9:g.19661257_19661258del	NCBI36
NG_008358.1:g.8858_8859del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.464_465del	ENSP00000372295.1:p.Tyr155CysfsTer?
ENST00000382848.5:c.464_465del MANE Select	ENSP00000372299.4:p.Tyr155CysfsTer?
ENST00000382844.1:c.464_465del	ENSP00000372295.1:p.Tyr155CysfsTer?
ENST00000382848.4:c.464_465del	ENSP00000372299.4:p.Tyr155CysfsTer?
NM_004004.5:c.464_465del	NP_003995.2:p.Tyr155CysfsTer?
XM_011535049.1:c.464_465del	XP_011533351.1:p.Tyr155CysfsTer?
XM_011535049.2:c.464_465del	XP_011533351.1:p.Tyr155CysfsTer?
NM_004004.6:c.464_465del MANE Select	NP_003995.2:p.Tyr155CysfsTer?