Canonical Allele Identifier: CA2622252308

Gene: GJB2

Linked Data

• gnomAD v4: 13-20189524-TGCTGGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189526_20189532del , CM000675.2:g.20189526_20189532del	GRCh38
NC_000013.10:g.20763665_20763671del , CM000675.1:g.20763665_20763671del	GRCh37
NC_000013.9:g.19661665_19661671del	NCBI36
NG_008358.1:g.8445_8451del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.51_57del	ENSP00000372295.1:p.Thr18LeufsTer15
ENST00000382848.5:c.51_57del MANE Select	ENSP00000372299.4:p.Thr18LeufsTer15
ENST00000382844.1:c.51_57del	ENSP00000372295.1:p.Thr18LeufsTer15
ENST00000382848.4:c.51_57del	ENSP00000372299.4:p.Thr18LeufsTer15
NM_004004.5:c.51_57del	NP_003995.2:p.Thr18LeufsTer15
XM_011535049.1:c.51_57del	XP_011533351.1:p.Thr18LeufsTer15
XM_011535049.2:c.51_57del	XP_011533351.1:p.Thr18LeufsTer15
NM_004004.6:c.51_57del MANE Select	NP_003995.2:p.Thr18LeufsTer15