Canonical Allele Identifier: CA2573159490

Gene: GJB1

Linked Data

• ClinVar Variation Id: 1503563
• ClinVar RCV Id: RCV002025543
• dbSNP Id: rs2147944724

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71223684_71223696del , CM000685.2:g.71223684_71223696del	GRCh38
NC_000023.10:g.70443534_70443546del , CM000685.1:g.70443534_70443546del	GRCh37
NC_000023.9:g.70360259_70360271del	NCBI36
NG_008357.1:g.13473_13485del , LRG_245:g.13473_13485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361726.7:c.-16-8_-12del
ENST00000374029.2:c.-16-8_-12del
ENST00000447581.2:c.-16-8_-12del
ENST00000645009.2:c.-16-8_-12del
ENST00000646835.1:c.-16-8_-12del
ENST00000647424.1:c.-16-8_-12del
ENST00000674549.1:c.-16-8_-12del
ENST00000674844.1:c.-16-8_-12del
ENST00000675209.1:c.-16-8_-12del
ENST00000675368.1:c.-16-8_-12del
ENST00000675609.1:c.-16-8_-12del
ENST00000361726.6:c.-16-8_-12del
ENST00000374022.3:c.-16-8_-12del
ENST00000374029.1:c.-16-8_-12del
ENST00000447581.1:c.-16-8_-12del
NM_000166.5:c.-16-8_-12del
NM_001097642.2:c.-16-8_-12del , LRG_245t1:c.-16-8_-12del
XM_011530907.1:c.-16-8_-12del
XM_011530907.2:c.-16-8_-12del
NM_000166.6:c.-16-8_-12del
NM_001097642.3:c.-16-8_-12del