Canonical Allele Identifier: CA608984155
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1474295490
gnomAD v2: 13-20763770-GGAA-G
MyVariant Identifiers: chr13:g.20763771_20763773del (hg19) chr13:g.20189632_20189634del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189632_20189634del , CM000675.2:g.20189632_20189634del GRCh38
NC_000013.10:g.20763771_20763773del , CM000675.1:g.20763771_20763773del GRCh37
NC_000013.9:g.19661771_19661773del NCBI36
NG_008358.1:g.8342_8344del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-53_-51del ENSP00000372295.1:n.-53_-51del
ENST00000382848.5:c.-22-31_-22-29del MANE Select ENSP00000372299.4:n.-22-31_-22-29del
ENST00000382844.1:c.-53_-51del ENSP00000372295.1:n.-53_-51del
ENST00000382848.4:c.-22-31_-22-29del ENSP00000372299.4:n.-22-31_-22-29del
NM_004004.5:c.-22-31_-22-29del NP_003995.2:n.-22-31_-22-29del
XM_011535049.1:c.-22-31_-22-29del XP_011533351.1:n.-22-31_-22-29del
XM_011535049.2:c.-22-31_-22-29del XP_011533351.1:n.-22-31_-22-29del
NM_004004.6:c.-22-31_-22-29del MANE Select NP_003995.2:n.-22-31_-22-29del
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