Canonical Allele Identifier: CA912980093
Gene: GJB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.20763234_20763276del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189095_20189137del , CM000675.2:g.20189095_20189137del GRCh38
NC_000013.10:g.20763234_20763276del , CM000675.1:g.20763234_20763276del GRCh37
NC_000013.9:g.19661234_19661276del NCBI36
NG_008358.1:g.8839_8881del

Transcript Alleles

HGVS Amino-acid change
ENST00000382844.2:c.445_487del ENSP00000372295.1:p.Ala149CysfsTer5
ENST00000382848.5:c.445_487del MANE Select ENSP00000372299.4:p.Ala149CysfsTer5
ENST00000382844.1:c.445_487del ENSP00000372295.1:p.Ala149CysfsTer5
ENST00000382848.4:c.445_487del ENSP00000372299.4:p.Ala149CysfsTer5
NM_004004.5:c.445_487del NP_003995.2:p.Ala149CysfsTer5
XM_011535049.1:c.445_487del XP_011533351.1:p.Ala149CysfsTer5
XM_011535049.2:c.445_487del XP_011533351.1:p.Ala149CysfsTer5
NM_004004.6:c.445_487del MANE Select NP_003995.2:p.Ala149CysfsTer5
Search 100 bp 5'
Search 100 bp 3'