Canonical Allele Identifier: CA2622252292

Gene: GJB2

Linked Data

• gnomAD v4: 13-20189188-G-GTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189188_20189189insTGTT , CM000675.2:g.20189188_20189189insTGTT	GRCh38
NC_000013.10:g.20763327_20763328insTGTT , CM000675.1:g.20763327_20763328insTGTT	GRCh37
NC_000013.9:g.19661327_19661328insTGTT	NCBI36
NG_008358.1:g.8787_8788insAACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.393_394insAACA	ENSP00000372295.1:p.Leu132AsnfsTer?
ENST00000382848.5:c.393_394insAACA MANE Select	ENSP00000372299.4:p.Leu132AsnfsTer?
ENST00000382844.1:c.393_394insAACA	ENSP00000372295.1:p.Leu132AsnfsTer?
ENST00000382848.4:c.393_394insAACA	ENSP00000372299.4:p.Leu132AsnfsTer?
NM_004004.5:c.393_394insAACA	NP_003995.2:p.Leu132AsnfsTer?
XM_011535049.1:c.393_394insAACA	XP_011533351.1:p.Leu132AsnfsTer?
XM_011535049.2:c.393_394insAACA	XP_011533351.1:p.Leu132AsnfsTer?
NM_004004.6:c.393_394insAACA MANE Select	NP_003995.2:p.Leu132AsnfsTer?