Canonical Allele Identifier: CA2077138684
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20188948_20188950delinsAAC , CM000675.2:g.20188948_20188950delinsAAC GRCh38
NC_000013.10:g.20763087_20763089delinsAAC , CM000675.1:g.20763087_20763089delinsAAC GRCh37
NC_000013.9:g.19661087_19661089delinsAAC NCBI36
NG_008358.1:g.9026_9028delinsGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.632_634delinsGTT ENSP00000372295.1:p.Cys211=
ENST00000382848.5:c.632_634delinsGTT MANE Select ENSP00000372299.4:p.Cys211=
ENST00000382844.1:c.632_634delinsGTT ENSP00000372295.1:p.Cys211=
ENST00000382848.4:c.632_634delinsGTT ENSP00000372299.4:p.Cys211=
NM_004004.5:c.632_634delinsGTT NP_003995.2:p.Cys211=
XM_011535049.1:c.632_634delinsGTT XP_011533351.1:p.Cys211=
XM_011535049.2:c.632_634delinsGTT XP_011533351.1:p.Cys211=
NM_004004.6:c.632_634delinsGTT MANE Select NP_003995.2:p.Cys211=
Search 100 bp 5'
Search 100 bp 3'