Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA953783134

Gene: GJB2 HGNC NCBI

Linked Data

dbSNP Id: rs1868386128

gnomAD v3: 13-20192749-TCCTGGCCGGGCAGTCCGGGGCCGGCGGGCTCA-T

gnomAD v4: 13-20192749-TCCTGGCCGGGCAGTCCGGGGCCGGCGGGCTCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20192754_20192785del , CM000675.2:g.20192754_20192785del	GRCh38
NC_000013.10:g.20766893_20766924del , CM000675.1:g.20766893_20766924del	GRCh37
NC_000013.9:g.19664893_19664924del	NCBI36
NG_008358.1:g.5195_5226del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382848.5:c.-23+2_-23+33del
ENST00000382848.4:c.-23+2_-23+33del
NM_004004.5:c.-23+2_-23+33del
NM_004004.6:c.-23+2_-23+33del

Search 100 bp 5'

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