Canonical Allele Identifier: CA2622252714

Gene: GJB2

Linked Data

• gnomAD v4: 13-20192752-TGGCCGGGCAGTCCGGGGCCGGCGGGCTCACCTGCGTCGGGAGGAAGCGCGGCGGGGCCGGGGCGGGGGTCTCGGCGTTGGGGTCTCTGCGCTGGGGCTCCTGCGCTCCTAGGCGGGTCCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20192761_20192881del , CM000675.2:g.20192761_20192881del	GRCh38
NC_000013.10:g.20766900_20767020del , CM000675.1:g.20766900_20767020del	GRCh37
NC_000013.9:g.19664900_19665020del	NCBI36
NG_008358.1:g.5103_5223del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382848.5:c.-113_-23+30del
ENST00000382848.4:c.-113_-23+30del
NM_004004.5:c.-113_-23+30del
NM_004004.6:c.-113_-23+30del