Canonical Allele Identifier: CA2622252730

Gene: GJB2

Linked Data

• gnomAD v4: 13-20192764-CCGGGGCCGGCGGGCTCACCTGCGTCGGGAGGAAGCGCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20192774_20192812del , CM000675.2:g.20192774_20192812del	GRCh38
NC_000013.10:g.20766913_20766951del , CM000675.1:g.20766913_20766951del	GRCh37
NC_000013.9:g.19664913_19664951del	NCBI36
NG_008358.1:g.5173_5211del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382848.5:c.-43_-23+18del
ENST00000382848.4:c.-43_-23+18del
NM_004004.5:c.-43_-23+18del
NM_004004.6:c.-43_-23+18del