Canonical Allele Identifier: CA2077137450

Gene: GJB2

Linked Data

• dbSNP Id: rs1959046718

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20187544_20187545insTTTAAACTATTCTTTATTATTACAAAATA , CM000675.2:g.20187544_20187545insTTTAAACTATTCTTTATTATTACAAAATA	GRCh38
NC_000013.10:g.20761683_20761684insTTTAAACTATTCTTTATTATTACAAAATA , CM000675.1:g.20761683_20761684insTTTAAACTATTCTTTATTATTACAAAATA	GRCh37
NC_000013.9:g.19659683_19659684insTTTAAACTATTCTTTATTATTACAAAATA	NCBI36
NG_008358.1:g.10431_10432insTATTTTGTAATAATAAAGAATAGTTTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA	ENSP00000372295.1:n.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTA...
ENST00000382848.5:c.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA MANE Select	ENSP00000372299.4:n.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTA...
ENST00000382844.1:c.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA	ENSP00000372295.1:n.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTA...
ENST00000382848.4:c.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA	ENSP00000372299.4:n.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTA...
NM_004004.5:c.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA	NP_003995.2:n.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA
XM_011535049.1:c.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA	XP_011533351.1:n.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA
XM_011535049.2:c.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA	XP_011533351.1:n.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA
NM_004004.6:c.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA MANE Select	NP_003995.2:n.*1356_*1357insTATTTTGTAATAATAAAGAATAGTTTAAA