Canonical Allele Identifier: CA2622251836
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188746-G-GTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188748_20188749dup , CM000675.2:g.20188748_20188749dup GRCh38
NC_000013.10:g.20762887_20762888dup , CM000675.1:g.20762887_20762888dup GRCh37
NC_000013.9:g.19660887_19660888dup NCBI36
NG_008358.1:g.9228_9229dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.*153_*154dup ENSP00000372295.1:n.*153_*154dup
ENST00000382848.5:c.*153_*154dup MANE Select ENSP00000372299.4:n.*153_*154dup
ENST00000382844.1:c.*153_*154dup ENSP00000372295.1:n.*153_*154dup
ENST00000382848.4:c.*153_*154dup ENSP00000372299.4:n.*153_*154dup
NM_004004.5:c.*153_*154dup NP_003995.2:n.*153_*154dup
XM_011535049.1:c.*153_*154dup XP_011533351.1:n.*153_*154dup
XM_011535049.2:c.*153_*154dup XP_011533351.1:n.*153_*154dup
NM_004004.6:c.*153_*154dup MANE Select NP_003995.2:n.*153_*154dup
Search 100 bp 5'
Search 100 bp 3'