Canonical Allele Identifier: CA2077140383

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189477_20189483delinsGATCATA , CM000675.2:g.20189477_20189483delinsGATCATA	GRCh38
NC_000013.10:g.20763616_20763622delinsGATCATA , CM000675.1:g.20763616_20763622delinsGATCATA	GRCh37
NC_000013.9:g.19661616_19661622delinsGATCATA	NCBI36
NG_008358.1:g.8493_8499delinsTATGATC

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.99_105delinsTATGATC	ENSP00000372295.1:p.Ile33=
ENST00000382848.5:c.99_105delinsTATGATC MANE Select	ENSP00000372299.4:p.Ile33=
ENST00000382844.1:c.99_105delinsTATGATC	ENSP00000372295.1:p.Ile33=
ENST00000382848.4:c.99_105delinsTATGATC	ENSP00000372299.4:p.Ile33=
NM_004004.5:c.99_105delinsTATGATC	NP_003995.2:p.Ile33=
XM_011535049.1:c.99_105delinsTATGATC	XP_011533351.1:p.Ile33=
XM_011535049.2:c.99_105delinsTATGATC	XP_011533351.1:p.Ile33=
NM_004004.6:c.99_105delinsTATGATC MANE Select	NP_003995.2:p.Ile33=