Canonical Allele Identifier: CA2077138350

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188657_20188661delinsAACTT , CM000675.2:g.20188657_20188661delinsAACTT	GRCh38
NC_000013.10:g.20762796_20762800delinsAACTT , CM000675.1:g.20762796_20762800delinsAACTT	GRCh37
NC_000013.9:g.19660796_19660800delinsAACTT	NCBI36
NG_008358.1:g.9315_9319delinsAAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.*240_*244delinsAAGTT	ENSP00000372295.1:n.*240_*244delinsAAGTT
ENST00000382848.5:c.*240_*244delinsAAGTT MANE Select	ENSP00000372299.4:n.*240_*244delinsAAGTT
ENST00000382844.1:c.*240_*244delinsAAGTT	ENSP00000372295.1:n.*240_*244delinsAAGTT
ENST00000382848.4:c.*240_*244delinsAAGTT	ENSP00000372299.4:n.*240_*244delinsAAGTT
NM_004004.5:c.*240_*244delinsAAGTT	NP_003995.2:n.*240_*244delinsAAGTT
XM_011535049.1:c.*240_*244delinsAAGTT	XP_011533351.1:n.*240_*244delinsAAGTT
XM_011535049.2:c.*240_*244delinsAAGTT	XP_011533351.1:n.*240_*244delinsAAGTT
NM_004004.6:c.*240_*244delinsAAGTT MANE Select	NP_003995.2:n.*240_*244delinsAAGTT