Canonical Allele Identifier: CA2077137698

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20187900_20187901delinsTG , CM000675.2:g.20187900_20187901delinsTG	GRCh38
NC_000013.10:g.20762039_20762040delinsTG , CM000675.1:g.20762039_20762040delinsTG	GRCh37
NC_000013.9:g.19660039_19660040delinsTG	NCBI36
NG_008358.1:g.10075_10076delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*1000_*1001delinsCA	ENSP00000372295.1:n.*1000_*1001delinsCA
ENST00000382848.5:c.*1000_*1001delinsCA MANE Select	ENSP00000372299.4:n.*1000_*1001delinsCA
ENST00000382844.1:c.*1000_*1001delinsCA	ENSP00000372295.1:n.*1000_*1001delinsCA
ENST00000382848.4:c.*1000_*1001delinsCA	ENSP00000372299.4:n.*1000_*1001delinsCA
NM_004004.5:c.*1000_*1001delinsCA	NP_003995.2:n.*1000_*1001delinsCA
XM_011535049.1:c.*1000_*1001delinsCA	XP_011533351.1:n.*1000_*1001delinsCA
XM_011535049.2:c.*1000_*1001delinsCA	XP_011533351.1:n.*1000_*1001delinsCA
NM_004004.6:c.*1000_*1001delinsCA MANE Select	NP_003995.2:n.*1000_*1001delinsCA