Canonical Allele Identifier: CA2622252310

Gene: GJB2

Linked Data

• gnomAD v4: 13-20189531-GGAGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189533_20189536del , CM000675.2:g.20189533_20189536del	GRCh38
NC_000013.10:g.20763672_20763675del , CM000675.1:g.20763672_20763675del	GRCh37
NC_000013.9:g.19661672_19661675del	NCBI36
NG_008358.1:g.8441_8444del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.47_50del	ENSP00000372295.1:p.His16ProfsTer18
ENST00000382848.5:c.47_50del MANE Select	ENSP00000372299.4:p.His16ProfsTer18
ENST00000382844.1:c.47_50del	ENSP00000372295.1:p.His16ProfsTer18
ENST00000382848.4:c.47_50del	ENSP00000372299.4:p.His16ProfsTer18
NM_004004.5:c.47_50del	NP_003995.2:p.His16ProfsTer18
XM_011535049.1:c.47_50del	XP_011533351.1:p.His16ProfsTer18
XM_011535049.2:c.47_50del	XP_011533351.1:p.His16ProfsTer18
NM_004004.6:c.47_50del MANE Select	NP_003995.2:p.His16ProfsTer18