Canonical Allele Identifier: CA2077139606

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189281_20189283delinsCAT , CM000675.2:g.20189281_20189283delinsCAT	GRCh38
NC_000013.10:g.20763420_20763422delinsCAT , CM000675.1:g.20763420_20763422delinsCAT	GRCh37
NC_000013.9:g.19661420_19661422delinsCAT	NCBI36
NG_008358.1:g.8693_8695delinsATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.299_301delinsATG	ENSP00000372295.1:p.His100=
ENST00000382848.5:c.299_301delinsATG MANE Select	ENSP00000372299.4:p.His100=
ENST00000382844.1:c.299_301delinsATG	ENSP00000372295.1:p.His100=
ENST00000382848.4:c.299_301delinsATG	ENSP00000372299.4:p.His100=
NM_004004.5:c.299_301delinsATG	NP_003995.2:p.His100=
XM_011535049.1:c.299_301delinsATG	XP_011533351.1:p.His100=
XM_011535049.2:c.299_301delinsATG	XP_011533351.1:p.His100=
NM_004004.6:c.299_301delinsATG MANE Select	NP_003995.2:p.His100=