Canonical Allele Identifier: CA2695217722
Gene: GJB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189440_20189445del , CM000675.2:g.20189440_20189445del GRCh38
NC_000013.10:g.20763579_20763584del , CM000675.1:g.20763579_20763584del GRCh37
NC_000013.9:g.19661579_19661584del NCBI36
NG_008358.1:g.8532_8537del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.138_143del ENSP00000372295.1:p.Asp46_Gln48delinsGlu
ENST00000382848.5:c.138_143del MANE Select ENSP00000372299.4:p.Asp46_Gln48delinsGlu
ENST00000382844.1:c.138_143del ENSP00000372295.1:p.Asp46_Gln48delinsGlu
ENST00000382848.4:c.138_143del ENSP00000372299.4:p.Asp46_Gln48delinsGlu
NM_004004.5:c.138_143del NP_003995.2:p.Asp46_Gln48delinsGlu
XM_011535049.1:c.138_143del XP_011533351.1:p.Asp46_Gln48delinsGlu
XM_011535049.2:c.138_143del XP_011533351.1:p.Asp46_Gln48delinsGlu
NM_004004.6:c.138_143del MANE Select NP_003995.2:p.Asp46_Gln48delinsGlu
Search 100 bp 5'
Search 100 bp 3'