Canonical Allele Identifier: CA2622252608
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20192677-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20192683dup , CM000675.2:g.20192683dup GRCh38
NC_000013.10:g.20766822dup , CM000675.1:g.20766822dup GRCh37
NC_000013.9:g.19664822dup NCBI36
NG_008358.1:g.5298dup

Transcript Alleles

HGVS Amino-acid change
ENST00000382848.5:c.-23+105dup MANE Select ENSP00000372299.4:n.-23+105dup
ENST00000382848.4:c.-23+105dup ENSP00000372299.4:n.-23+105dup
NM_004004.5:c.-23+105dup NP_003995.2:n.-23+105dup
NM_004004.6:c.-23+105dup MANE Select NP_003995.2:n.-23+105dup
Search 100 bp 5'
Search 100 bp 3'