Canonical Allele Identifier: CA2077139558
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189271_20189274delinsCTCT , CM000675.2:g.20189271_20189274delinsCTCT GRCh38
NC_000013.10:g.20763410_20763413delinsCTCT , CM000675.1:g.20763410_20763413delinsCTCT GRCh37
NC_000013.9:g.19661410_19661413delinsCTCT NCBI36
NG_008358.1:g.8702_8705delinsAGAG

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.308_311delinsAGAG ENSP00000372295.1:p.Lys103=
ENST00000382848.5:c.308_311delinsAGAG MANE Select ENSP00000372299.4:p.Lys103=
ENST00000382844.1:c.308_311delinsAGAG ENSP00000372295.1:p.Lys103=
ENST00000382848.4:c.308_311delinsAGAG ENSP00000372299.4:p.Lys103=
NM_004004.5:c.308_311delinsAGAG NP_003995.2:p.Lys103=
XM_011535049.1:c.308_311delinsAGAG XP_011533351.1:p.Lys103=
XM_011535049.2:c.308_311delinsAGAG XP_011533351.1:p.Lys103=
NM_004004.6:c.308_311delinsAGAG MANE Select NP_003995.2:p.Lys103=
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