Canonical Allele Identifier: CA2695217719

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189410_20189411delinsAA , CM000675.2:g.20189410_20189411delinsAA	GRCh38
NC_000013.10:g.20763549_20763550delinsAA , CM000675.1:g.20763549_20763550delinsAA	GRCh37
NC_000013.9:g.19661549_19661550delinsAA	NCBI36
NG_008358.1:g.8565_8566delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.171_172delinsTT	ENSP00000372295.1:p.Gln57_Pro58delinsHisS...
ENST00000382848.5:c.171_172delinsTT MANE Select	ENSP00000372299.4:p.Gln57_Pro58delinsHisS...
ENST00000382844.1:c.171_172delinsTT	ENSP00000372295.1:p.Gln57_Pro58delinsHisS...
ENST00000382848.4:c.171_172delinsTT	ENSP00000372299.4:p.Gln57_Pro58delinsHisS...
NM_004004.5:c.171_172delinsTT	NP_003995.2:p.Gln57_Pro58delinsHisSer
XM_011535049.1:c.171_172delinsTT	XP_011533351.1:p.Gln57_Pro58delinsHisSer
XM_011535049.2:c.171_172delinsTT	XP_011533351.1:p.Gln57_Pro58delinsHisSer
NM_004004.6:c.171_172delinsTT MANE Select	NP_003995.2:p.Gln57_Pro58delinsHisSer