Canonical Allele Identifier: CA2622252056
Gene: GJB2 HGNC NCBI

Linked Data

gnomAD v4: 13-20188894-C-CTT
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188894_20188895insTT , CM000675.2:g.20188894_20188895insTT GRCh38
NC_000013.10:g.20763033_20763034insTT , CM000675.1:g.20763033_20763034insTT GRCh37
NC_000013.9:g.19661033_19661034insTT NCBI36
NG_008358.1:g.9081_9082insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.*6_*7insAA ENSP00000372295.1:n.*6_*7insAA
ENST00000382848.5:c.*6_*7insAA MANE Select ENSP00000372299.4:n.*6_*7insAA
ENST00000382844.1:c.*6_*7insAA ENSP00000372295.1:n.*6_*7insAA
ENST00000382848.4:c.*6_*7insAA ENSP00000372299.4:n.*6_*7insAA
NM_004004.5:c.*6_*7insAA NP_003995.2:n.*6_*7insAA
XM_011535049.1:c.*6_*7insAA XP_011533351.1:n.*6_*7insAA
XM_011535049.2:c.*6_*7insAA XP_011533351.1:n.*6_*7insAA
NM_004004.6:c.*6_*7insAA MANE Select NP_003995.2:n.*6_*7insAA
Search 100 bp 5'
Search 100 bp 3'