Canonical Allele Identifier: CA2622252754
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20192770-CCGGCGGGCTCACCTGCGTCGGGAGGAAGCG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192778_20192807del , CM000675.2:g.20192778_20192807del GRCh38
NC_000013.10:g.20766917_20766946del , CM000675.1:g.20766917_20766946del GRCh37
NC_000013.9:g.19664917_19664946del NCBI36
NG_008358.1:g.5176_5205del

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-40_-23+12del
ENST00000382848.4:c.-40_-23+12del
NM_004004.5:c.-40_-23+12del
NM_004004.6:c.-40_-23+12del
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