Canonical Allele Identifier: CA6904341
Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs752236945
ExAC: 13:20763730 TG / T
gnomAD v2: 13-20763730-TG-T
gnomAD v4: 13-20189591-TG-T
MyVariant Identifiers: chr13:g.20763731del (hg19) chr13:g.20189592del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189594del , CM000675.2:g.20189594del GRCh38
NC_000013.10:g.20763733del , CM000675.1:g.20763733del GRCh37
NC_000013.9:g.19661733del NCBI36
NG_008358.1:g.8384del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382844.2:c.-11del ENSP00000372295.1:n.-11del
ENST00000382848.5:c.-11del MANE Select ENSP00000372299.4:n.-11del
ENST00000382844.1:c.-11del ENSP00000372295.1:n.-11del
ENST00000382848.4:c.-11del ENSP00000372299.4:n.-11del
NM_004004.5:c.-11del NP_003995.2:n.-11del
XM_011535049.1:c.-11del XP_011533351.1:n.-11del
XM_011535049.2:c.-11del XP_011533351.1:n.-11del
NM_004004.6:c.-11del MANE Select NP_003995.2:n.-11del
Search 100 bp 5'
Search 100 bp 3'