Canonical Allele Identifier: CA2695217710

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189287_20189292delinsCGGG , CM000675.2:g.20189287_20189292delinsCGGG	GRCh38
NC_000013.10:g.20763426_20763431delinsCGGG , CM000675.1:g.20763426_20763431delinsCGGG	GRCh37
NC_000013.9:g.19661426_19661431delinsCGGG	NCBI36
NG_008358.1:g.8684_8689delinsCCCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.290_295delinsCCCG	ENSP00000372295.1:p.Tyr97SerfsTer4
ENST00000382848.5:c.290_295delinsCCCG MANE Select	ENSP00000372299.4:p.Tyr97SerfsTer4
ENST00000382844.1:c.290_295delinsCCCG	ENSP00000372295.1:p.Tyr97SerfsTer4
ENST00000382848.4:c.290_295delinsCCCG	ENSP00000372299.4:p.Tyr97SerfsTer4
NM_004004.5:c.290_295delinsCCCG	NP_003995.2:p.Tyr97SerfsTer4
XM_011535049.1:c.290_295delinsCCCG	XP_011533351.1:p.Tyr97SerfsTer4
XM_011535049.2:c.290_295delinsCCCG	XP_011533351.1:p.Tyr97SerfsTer4
NM_004004.6:c.290_295delinsCCCG MANE Select	NP_003995.2:p.Tyr97SerfsTer4