Canonical Allele Identifier: CA1139532488
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189553_20189554delinsCA , CM000675.2:g.20189553_20189554delinsCA GRCh38
NC_000013.10:g.20763692_20763693delinsCA , CM000675.1:g.20763692_20763693delinsCA GRCh37
NC_000013.9:g.19661692_19661693delinsCA NCBI36
NG_008358.1:g.8422_8423delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.28_29delinsTG ENSP00000372295.1:p.Leu10Trp
ENST00000382848.5:c.28_29delinsTG MANE Select ENSP00000372299.4:p.Leu10Trp
ENST00000382844.1:c.28_29delinsTG ENSP00000372295.1:p.Leu10Trp
ENST00000382848.4:c.28_29delinsTG ENSP00000372299.4:p.Leu10Trp
NM_004004.5:c.28_29delinsTG NP_003995.2:p.Leu10Trp
XM_011535049.1:c.28_29delinsTG XP_011533351.1:p.Leu10Trp
XM_011535049.2:c.28_29delinsTG XP_011533351.1:p.Leu10Trp
NM_004004.6:c.28_29delinsTG MANE Select NP_003995.2:p.Leu10Trp
Search 100 bp 5'
Search 100 bp 3'