Canonical Allele Identifier: CA341604
Gene: GJB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21083
ClinVar RCV Id: RCV000020173
dbSNP Id: rs116840820

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71223932del , CM000685.2:g.71223932del GRCh38
NC_000023.9:g.70360507del NCBI36
NC_000023.10:g.70443782del , CM000685.1:g.70443782del GRCh37
NG_008357.1:g.13721del , LRG_245:g.13721del

Transcript Alleles

HGVS Amino-acid change
ENST00000361726.6:c.225del ENSP00000354900.6:p.Leu76CysfsTer8
ENST00000374022.3:c.225del ENSP00000363134.3:p.Leu76CysfsTer8
ENST00000374029.1:c.225del ENSP00000363141.1:p.Leu76CysfsTer8
ENST00000447581.1:c.225del ENSP00000407223.1:p.Leu76CysfsTer8
NM_000166.5:c.225del NP_000157.1:p.Leu76CysfsTer8
NM_001097642.2:c.225del , LRG_245t1:c.225del NP_001091111.1:p.Leu76CysfsTer8
XM_011530907.1:c.225del XP_011529209.1:p.Leu76CysfsTer8