Canonical Allele Identifier: CA261643
Community Standard Title: NM_004004.6(GJB2):c.299_300del (p.His100ArgfsTer14)
Gene: GJB2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20189282_20189283del , CM000675.2:g.20189282_20189283del GRCh38
NC_000013.10:g.20763421_20763422del , CM000675.1:g.20763421_20763422del GRCh37
NC_000013.9:g.19661421_19661422del NCBI36
NG_008358.1:g.8693_8694del

Transcript Alleles

HGVS Amino-acid Change
NM_004004.6:c.299_300del MANE Select NP_003995.2:p.His100ArgfsTer14
ENST00000382848.5:c.299_300del MANE Select ENSP00000372299.4:p.His100ArgfsTer14
NM_004004.5:c.299_300del NP_003995.2:p.His100ArgfsTer14
ENST00000382844.1:c.299_300del ENSP00000372295.1:p.His100ArgfsTer14
ENST00000382844.2:c.299_300del ENSP00000372295.1:p.His100ArgfsTer14
ENST00000382848.4:c.299_300del ENSP00000372299.4:p.His100ArgfsTer14
XM_011535049.1:c.299_300del XP_011533351.1:p.His100ArgfsTer14
XM_011535049.2:c.299_300del XP_011533351.1:p.His100ArgfsTer14
Search 100 bp 5'
Search 100 bp 3'